A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239354



Internal ID22374396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:10843641..10849527hg38UCSC Ensembl
Outerchr17:10746958..10752844hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38883
hg19883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261109, nssv14261110, nssv14261108, nssv14261107
SamplesHG00512, NA19239, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239354
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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