A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248658



Internal ID22377044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123901357..123938536hg38UCSC Ensembl
Outerchr12:124385904..124423083hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382383
hg192383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256471, nssv14256469, nssv14256467, nssv14256472, nssv14256473, nssv14256468, nssv14256470, nssv14256474
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCCDC92, DNAH10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248658
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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