A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593572



Internal ID16034295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7426172..7435637hg38UCSC Ensembl
Innerchr4:7427899..7437364hg19UCSC Ensembl
Innerchr4:7478800..7488264hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg389466
hg199466
hg189465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv990883
Samples
Known GenesPSAPL1, SORCS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593572
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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