A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707652



Internal ID131318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30038667..30041639hg38UCSC Ensembl
chr16:30049988..30052960hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382973
hg192973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517344
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707652
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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