A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694461



Internal ID15084427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97787220..98209740hg38UCSC Ensembl
Innerchr2:98403683..98826203hg19UCSC Ensembl
Innerchr2:97770115..98192635hg18UCSC Ensembl
Innerchr2:97862201..98284721hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38422521
hg19422521
hg18422521
hg17422521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521568
Supporting Variants
Samples
Known GenesTMEM131, VWA3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694461
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer