A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039283



Internal ID18781814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:41328301..41453282hg38UCSC Ensembl
Innerchr15:41620499..41745480hg19UCSC Ensembl
Innerchr15:39407791..39532772hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38124982
hg19124982
hg18124982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3552257
Samples
Known GenesNDUFAF1, NUSAP1, OIP5, RTF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039283
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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