A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17621347



Internal ID21813394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80069809..80069809hg38UCSC Ensembl
chr17:78043608..78043608hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6093259
Supporting Variants
Samples
Known GenesCCDC40
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17621347
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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