A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593747



Internal ID16381156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12363839..12382323hg38UCSC Ensembl
Innerchr4:12365463..12383947hg19UCSC Ensembl
Innerchr4:11974561..11993045hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3818485
hg1918485
hg1818485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8974n54
Supporting Variantsnssv1153446, nssv1153448, nssv1153447, nssv993073
SamplesHGDP01035, HGDP01271, HGDP00940
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593747
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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