A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051993



Internal ID19141212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20267586..20952464hg38UCSC Ensembl
Innerchr15:20472839..21157793hg19UCSC Ensembl
Innerchr15:18732853..19422452hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38684879
hg19684955
hg18689600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2212n100
Supporting Variantsnssv3534869, nssv3534870
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051993
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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