A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593320



Internal ID16034043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1553021..1657401hg38UCSC Ensembl
Innerchr4:1554748..1659128hg19UCSC Ensembl
Innerchr4:1524877..1628925hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38104381
hg19104381
hg18104049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987710
Samples
Known GenesFAM53A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593320
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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