A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892936



Internal ID169460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185948587..185954587hg38UCSC Ensembl
chr1:185917719..185923719hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445200
Supporting Variants
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892936
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001586


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