A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704783



Internal ID128449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21520043..21859486hg38UCSC Ensembl
chr16:21531364..21870807hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38339444
hg19339444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145211
Supporting Variants
Samples
Known GenesIGSF6, METTL9, OTOA, RRN3P1, SLC7A5P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704783
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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