A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307389



Internal ID22319603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:67593226..67593354hg38UCSC Ensembl
chr3:67643650..67643778hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201864
Supporting Variants
SamplesNA19240
Known GenesSUCLG2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307389
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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