A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246108



Internal ID22376329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:86492836..86504456hg38UCSC Ensembl
Outerchr10:88252593..88264213hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg383432
hg193432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252692, nssv14252694, nssv14252688, nssv14252690, nssv14252695, nssv14252693, nssv14252696, nssv14252689, nssv14252691
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesWAPAL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246108
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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