A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192183



Internal ID22342800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201275689..201284836hg38UCSC Ensembl
Outerchr2:202140412..202149559hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg389148
hg199148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263840, nssv14263835, nssv14263836, nssv14263837, nssv14263838, nssv14263839, nssv14263841
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesCASP8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192183
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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