A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925068



Internal ID17463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231687618..231693618hg38UCSC Ensembl
chr2:232552328..232558328hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140120
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925068
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006021


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