A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17628630



Internal ID21820677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31193164..31206845hg38UCSC Ensembl
chr16:31204485..31218166hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813682
hg1913682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6024608
Supporting Variants
Samples
Known GenesC16orf98, FUS, PYCARD
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17628630
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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