A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047187



Internal ID19136406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20206113..22014043hg38UCSC Ensembl
Innerchr15:20411366..22301994hg19UCSC Ensembl
Innerchr15:18671380..19803358hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381807931
hg191890629
hg181131979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2214n100
Supporting Variantsnssv3538176
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, 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)nsv1047187
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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