A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040282



Internal ID19129501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20376297..20638246hg38UCSC Ensembl
Innerchr15:20581550..20843550hg19UCSC Ensembl
Innerchr15:18841564..19103564hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38261950
hg19262001
hg18262001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2236n100
Supporting Variantsnssv3535948, nssv3535949
Samples
Known GenesGOLGA6L6, 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)nsv1040282
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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