A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593387



Internal ID16380796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2257730..2262637hg38UCSC Ensembl
Innerchr4:2259457..2264364hg19UCSC Ensembl
Innerchr4:2229255..2234162hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384908
hg194908
hg184908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8912n54
Supporting Variantsnssv988543
Samples
Known GenesMXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593387
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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