A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217425



Internal ID22363086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:38799969..38857692hg38UCSC Ensembl
Outerchr12:39193771..39251494hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3857724
hg1957724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255356, nssv14255357
SamplesHG00512, HG00732
Known GenesCPNE8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217425
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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