A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569396



Internal ID16010119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50478671..50892386hg38UCSC Ensembl
Innerchr15:50770868..51184583hg19UCSC Ensembl
Innerchr15:48558160..48971875hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38413716
hg19413716
hg18413716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4525n54
Supporting Variantsnssv1148862
SamplesHGDP00614
Known GenesSPPL2A, TRPM7, USP50, USP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569396
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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