A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv570389



Internal ID16011112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:89894194..89899908hg38UCSC Ensembl
Innerchr15:90437426..90443140hg19UCSC Ensembl
Innerchr15:88238430..88244144hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg385715
hg195715
hg185715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv848202
Samples
Known GenesAP3S2, C15orf38, C15orf38-AP3S2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv570389
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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