A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593548



Internal ID16380957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7041372..7044218hg38UCSC Ensembl
Innerchr4:7043099..7045945hg19UCSC Ensembl
Innerchr4:7094000..7096846hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg382847
hg192847
hg182847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv990850
Samples
Known GenesCCDC96, LOC100129931, TADA2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593548
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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