A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593540



Internal ID16380949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6782499..6783751hg38UCSC Ensembl
Innerchr4:6784226..6785478hg19UCSC Ensembl
Innerchr4:6835127..6836379hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381253
hg191253
hg181253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8938n54
Supporting Variantsnssv990247
Samples
Known GenesKIAA0232
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593540
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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