A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039684



Internal ID18782215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28080438..28315658hg38UCSC Ensembl
Innerchr15:28325584..28560804hg19UCSC Ensembl
Innerchr15:25999179..26234399hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38235221
hg19235221
hg18235221
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3721469
Samples
Known GenesHERC2, OCA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039684
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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