A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047820



Internal ID19137039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20327352..20609659hg38UCSC Ensembl
Innerchr15:20532605..20814965hg19UCSC Ensembl
Innerchr15:18792619..19074979hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38282308
hg19282361
hg18282361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2236n100
Supporting Variantsnssv3536166
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)nsv1047820
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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