WebOf the 1732 ClinVar variants that failed to lift over, 1186 overlap documented insertions or deletions that distinguish the GRCh38 and T2T-CHM13 assemblies. The remaining 546 variants (<0.1% of all variants) lie within regions of poor alignment between the GRCh38 and T2T-CHM13 assemblies . The modes of liftover failure for variants in dbSNP and ... WebMar 23, 2024 · The ClinVar record display. ClinVar has two types of detailed displays: record and variation. This document describes the record display. ClinVar's default …
Using GRCh38 for Clinical Interpretation with our LiftOver Tracks
WebFeb 13, 2024 · First in ClinVar: Feb 8, 2024 Most recent Submission: Feb 7, 2024 Last evaluated: Apr 3, 2024 Accession: VCV002121094.1 Variation ID: 2121094 Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_032237.5 (POMK):c.401T>A (p.Val134Asp) Allele ID 2184145 Variant type single nucleotide … Web# Databases for human GRCh38 (hg38) database.clinvar.GRCh38 = ./db/GRCh38/clinvar/clinvar-latest.vcf.gz database.repository.clinvar = … featherhorn farms pinewood nc
A complete reference genome improves analysis of human genetic ...
WebMar 26, 2024 · GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 Cite this record. Cite this record ... First in ClinVar: Jul 13, 2015 Most recent Submission: Jul 13, 2015 Last evaluated: Nov 26, 2012 Accession: VCV000154857.2 Variation ID: 154857 Description: 94.7Mb copy number gain. WebNov 2, 2024 · November 2, 2024 ClinVar GRCh38 Matched Annotation from NCBI and EMBL-EBI (MANE) IgBLAST 1.17 is now available with improved identification of productive V gene sequences November 18 Webinar: A new way to prepare genome submissions using NCBI’s Genome Workbench! Leave a Reply WebAug 24, 2024 · First in ClinVar: Dec 17, 2024 Most recent Submission: May 4, 2024 Last evaluated: Dec 31, 2024 Accession: VCV000715246.4 Variation ID: 715246 Description: ... GRCh38 GRCh37: 64: 89: Submitted interpretations and evidence Help. Interpretation (Last evaluated) Review status (Assertion criteria) Condition (Inheritance) Submitter featherhorn young guns