A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202165



Internal ID22351365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73779132..73818402hg38UCSC Ensembl
Outerchr2:74006259..74045529hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3839271
hg1939271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264584, nssv14264581, nssv14264580, nssv14264583, nssv14264582, nssv14264579
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known GenesC2orf78, DUSP11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202165
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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