A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277828



Internal ID22274924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:346117..374807hg38UCSC Ensembl
Outerchr7:386083..414773hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382697
hg192697
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227332
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277828
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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