A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280192



Internal ID22121045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148935456..148953984hg38UCSC Ensembl
Outerchr7:148632548..148651076hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217327
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280192
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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