A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683908



Internal ID107574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:82414980..82415096hg38UCSC Ensembl
chr1:82880663..82880779hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431229
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683908
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.033406


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