A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040259



Internal ID19129478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20060713..20741749hg38UCSC Ensembl
Innerchr15:20265966..20947078hg19UCSC Ensembl
Innerchr15:18525980..19207088hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38681037
hg19681113
hg18681109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2201n100
Supporting Variantsnssv3715944
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040259
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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