A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044099



Internal ID19133318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20359322..20666507hg38UCSC Ensembl
Innerchr15:20564575..20871836hg19UCSC Ensembl
Innerchr15:18824589..19131850hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38307186
hg19307262
hg18307262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2228n100
Supporting Variantsnssv3537555
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)nsv1044099
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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