A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189764



Internal ID21328607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56584259..56584259hg38UCSC Ensembl
chr3:56618287..56618287hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947764
Supporting Variants
SamplesHG002
Known GenesCCDC66
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189764
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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