A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263912



Internal ID22268792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240899742..240911405hg38UCSC Ensembl
Outerchr2:241839159..241850822hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3811664
hg1911664
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202766
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263912
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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