A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247634



Internal ID22376770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61189044..61217404hg38UCSC Ensembl
Outerchr8:62101603..62129963hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg384277
hg194277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280377, nssv14280376, nssv14280371, nssv14280372, nssv14280374, nssv14280373, nssv14280378, nssv14280375, nssv14280379
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247634
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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