A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054617



Internal ID104245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4234280..4241047hg38UCSC Ensembl
chr12:4343446..4350213hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg386768
hg196768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143646
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054617
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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