A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593189



Internal ID16033912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:73616..173807hg38UCSC Ensembl
Innerchr4:73508..167596hg19UCSC Ensembl
Innerchr4:63508..157596hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38100192
hg1994089
hg1894089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153423
Samples1780854039_A
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593189
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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