A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569315



Internal ID16010038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45153958..45480250hg38UCSC Ensembl
Innerchr15:45446156..45772448hg19UCSC Ensembl
Innerchr15:43233448..43559740hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38326293
hg19326293
hg18326293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv842459
Samples
Known GenesC15orf48, DUOX1, GATM, GATM-AS1, MIR147B, SHF, SLC28A2, SPATA5L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569315
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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