A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382123



Internal ID22316314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43668643..43668956hg38UCSC Ensembl
chr17:41746011..41746324hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224823
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14382123
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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