A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247907



Internal ID22376823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:60452323..60483008hg38UCSC Ensembl
Outerchr10:62212081..62242766hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg381260
hg191260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253219, nssv14253213, nssv14253220, nssv14253212, nssv14253217, nssv14253215, nssv14253216, nssv14253214, nssv14253218
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesANK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247907
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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