A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217327



Internal ID22363027
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280193, nssv14280192
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217327
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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