A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596286



Internal ID16383695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:179478630..179518083hg38UCSC Ensembl
Innerchr4:180399783..180439236hg19UCSC Ensembl
Innerchr4:180636777..180676230hg18UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3839454
hg1939454
hg1839454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1017051
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596286
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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