A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054513



Internal ID19143732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20336715..20625059hg38UCSC Ensembl
Innerchr15:20541968..20830362hg19UCSC Ensembl
Innerchr15:18801982..19090376hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38288345
hg19288395
hg18288395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2236n100
Supporting Variantsnssv3536249
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)nsv1054513
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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