A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217099



Internal ID22362871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:93472925..93500508hg38UCSC Ensembl
Outerchr13:94125178..94152761hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3827584
hg1927584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257632, nssv14257631, nssv14257630, nssv14257629
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesGPC6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217099
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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