A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046421



Internal ID19135640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22385562..22714034hg38UCSC Ensembl
Innerchr15:23159062..23487534hg19UCSC Ensembl
Innerchr15:20710503..21038975hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38328473
hg19328473
hg18328473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2410n100
Supporting Variantsnssv3538882
Samples
Known GenesGOLGA8EP, GOLGA8I, HERC2P2, HERC2P7, WHAMMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046421
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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