A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309652



Internal ID22307740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:102045644..102129175hg38UCSC Ensembl
chr3:101764488..101848019hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg3883532
hg1983532
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207547
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309652
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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