A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997686



Internal ID18810536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131095274..131149725hg38UCSC Ensembl
Innerchr2:131852847..131907298hg19UCSC Ensembl
Innerchr2:131569317..131623768hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3854452
hg1954452
hg1854452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4076n100
Supporting Variantsnssv3580848, nssv3580849
Samples
Known GenesPLEKHB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997686
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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