A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041672



Internal ID19130891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20992019hg38UCSC Ensembl
Innerchr15:20440526..21197348hg19UCSC Ensembl
Innerchr15:18700540..19462007hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38756747
hg19756823
hg18761468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2212n100
Supporting Variantsnssv3539473, nssv3539474
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)nsv1041672
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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