A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291097



Internal ID22279000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119500190..119522191hg38UCSC Ensembl
chr1:120042813..120064814hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3822002
hg1922002
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197320
Supporting Variants
SamplesNA19239
Known GenesHSD3B1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291097
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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