A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041532



Internal ID18784063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:27807877..28121044hg38UCSC Ensembl
Innerchr15:28053023..28366190hg19UCSC Ensembl
Innerchr15:25726618..26039785hg18UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38313168
hg19313168
hg18313168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2489n100
Supporting Variantsnssv3721468
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)nsv1041532
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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