A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050368



Internal ID19139587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20336715..20601040hg38UCSC Ensembl
Innerchr15:20541968..20806345hg19UCSC Ensembl
Innerchr15:18801982..19066359hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38264326
hg19264378
hg18264378
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2249n100
Supporting Variantsnssv3536245, nssv3536246
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)nsv1050368
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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