A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234800



Internal ID22373124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44326213..44340764hg38UCSC Ensembl
Outerchr17:42403581..42418132hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261611, nssv14261609, nssv14261610, nssv14261606, nssv14261607, nssv14261608
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234800
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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