A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238656



Internal ID22374219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:23330520..23344569hg38UCSC Ensembl
Outerchr10:23619449..23633498hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg381082
hg191082
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283654, nssv14283651, nssv14283656, nssv14283653, nssv14283655, nssv14283658, nssv14283657, nssv14282916, nssv14283652
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC10orf67
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238656
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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