A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594202



Internal ID16034925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54077265..54144956hg38UCSC Ensembl
Innerchr4:54943432..55011123hg19UCSC Ensembl
Innerchr4:54638189..54705880hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3867692
hg1967692
hg1867692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9049n54
Supporting Variantsnssv998037
Samples
Known GenesGSX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594202
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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