A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038472



Internal ID18781003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:27647423..28256473hg38UCSC Ensembl
Innerchr15:27892569..28501619hg19UCSC Ensembl
Innerchr15:25566164..26175214hg18UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38609051
hg19609051
hg18609051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3545636
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)nsv1038472
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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