A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569398



Internal ID16010121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50496928..51002798hg38UCSC Ensembl
Innerchr15:50789125..51294995hg19UCSC Ensembl
Innerchr15:48576417..49082287hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38505871
hg19505871
hg18505871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv842974
Samples
Known GenesAP4E1, DCAF13P3, SPPL2A, TRPM7, USP50, USP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569398
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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