A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209992



Internal ID22357983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126912225..126921956hg38UCSC Ensembl
Outerchr2:127669801..127679532hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg389732
hg199732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264449, nssv14265411, nssv14264447, nssv14265412, nssv14265410, nssv14264450, nssv14264448, nssv14265413
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209992
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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