A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255357



Internal ID22200117
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217425
Supporting Variants
SamplesHG00732
Known GenesCPNE8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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