A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050992



Internal ID18793523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:131448229..131943719hg38UCSC Ensembl
Innerchr10:133246492..133757223hg19UCSC Ensembl
Innerchr10:133136482..133607213hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38495491
hg19510732
hg18470732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv990n100
Supporting Variantsnssv3511729, nssv3504258, nssv3521459
Samples
Known GenesFLJ46300, PPP2R2D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050992
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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