A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593223



Internal ID16033946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:804723..871439hg38UCSC Ensembl
Innerchr4:798511..865227hg19UCSC Ensembl
Innerchr4:788511..855227hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3866717
hg1966717
hg1866717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153428
Samples1780862347_A
Known GenesCPLX1, GAK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593223
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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