A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309504



Internal ID22280575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139780460..139780460hg38UCSC Ensembl
chr3:139499302..139499302hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562638
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309504
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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