A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17598326



Internal ID21790370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64205779..64205779hg38UCSC Ensembl
chr12:64599559..64599559hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6098944
Supporting Variants
Samples
Known GenesC12orf66
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17598326
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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