A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261602



Internal ID22266404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43402261..43419113hg38UCSC Ensembl
Outerchr17:41479629..41496481hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382106
hg192106
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244124
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261602
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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