A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040073



Internal ID19129292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20086048..20609659hg38UCSC Ensembl
Innerchr15:20291301..20814965hg19UCSC Ensembl
Innerchr15:18551315..19074979hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38523612
hg19523665
hg18523665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2201n100
Supporting Variantsnssv3537916
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040073
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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