A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593438



Internal ID16034161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2946729..3028370hg38UCSC Ensembl
Innerchr4:2948456..3030097hg19UCSC Ensembl
Innerchr4:2918254..2999895hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3881642
hg1981642
hg1881642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989112
Samples
Known GenesGRK4, NOP14, NOP14-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593438
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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