A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246642



Internal ID22376473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:31674313..31688755hg38UCSC Ensembl
Outerchr10:31963241..31977683hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282998, nssv14283000, nssv14283004, nssv14283002, nssv14283001, nssv14283003, nssv14282999
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246642
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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