A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041223



Internal ID19130442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20376186..20649173hg38UCSC Ensembl
Innerchr15:20581439..20854501hg19UCSC Ensembl
Innerchr15:18841453..19114515hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38272988
hg19273063
hg18273063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2236n100
Supporting Variantsnssv3535895
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)nsv1041223
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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