A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593551



Internal ID16380960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7042597..7043771hg38UCSC Ensembl
Innerchr4:7044324..7045498hg19UCSC Ensembl
Innerchr4:7095225..7096399hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381175
hg191175
hg181175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8941n54
Supporting Variantsnssv990857, nssv990856, nssv990854, nssv990855
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)nsv593551
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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