A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278393



Internal ID22274474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36944021..36948375hg38UCSC Ensembl
Outerchr6:36911797..36916151hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382564
hg192564
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213135
Supporting Variants
SamplesNA19239
Known GenesPI16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278393
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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