A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3539469



Internal ID18837750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20864508hg38UCSC Ensembl
Innerchr15:20440526..21069837hg19UCSC Ensembl
Innerchr15:18700540..19334416hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38629236
hg19629312
hg18633877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038783
Supporting Variants
Samples
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, 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)nssv3539469
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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