A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232660



Internal ID22372562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69593817..69631604hg38UCSC Ensembl
Outerchr10:71353573..71391360hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252610, nssv14252606, nssv14252608, nssv14252611, nssv14252607, nssv14252609, nssv14252612, nssv14252605
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC10orf35
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232660
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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