A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593388



Internal ID16034111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2257730..2266399hg38UCSC Ensembl
Innerchr4:2259457..2268126hg19UCSC Ensembl
Innerchr4:2229255..2237924hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg388670
hg198670
hg188670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv988544
Samples
Known GenesMXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593388
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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