A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220792



Internal ID22365390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26328954..26337308hg38UCSC Ensembl
Outerchr2:26551822..26560176hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383241
hg193241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265537, nssv14265542, nssv14265544, nssv14265543, nssv14265539, nssv14265541, nssv14265536, nssv14265540, nssv14265538
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGPR113
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220792
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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