A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593392



Internal ID16380801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2261514..2262694hg38UCSC Ensembl
Innerchr4:2263241..2264421hg19UCSC Ensembl
Innerchr4:2233039..2234219hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381181
hg191181
hg181181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8914n54
Supporting Variantsnssv988549, nssv988548, nssv988551, nssv988550
Samples
Known GenesMXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593392
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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