A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707668



Internal ID131334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30294486..30303000hg38UCSC Ensembl
chr16:30305807..30314321hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388515
hg198515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145617
Supporting Variants
Samples
Known GenesLOC440354, LOC595101
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.038132


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