A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042969



Internal ID19132188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20283071..20929146hg38UCSC Ensembl
Innerchr15:20488324..21134475hg19UCSC Ensembl
Innerchr15:18748338..19399134hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38646076
hg19646152
hg18650797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2212n100
Supporting Variantsnssv3713696
Samples
Known GenesCHEK2P2, 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)nsv1042969
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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