A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306765



Internal ID22273962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42796871..42799318hg38UCSC Ensembl
chr3:42838363..42840810hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526134
Supporting Variants
SamplesNA19239
Known GenesHIGD1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306765
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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