A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593389



Internal ID16380798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2261412..2262547hg38UCSC Ensembl
Innerchr4:2263139..2264274hg19UCSC Ensembl
Innerchr4:2232937..2234072hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381136
hg191136
hg181136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8913n54
Supporting Variantsnssv988545
Samples
Known GenesMXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593389
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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