A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593373



Internal ID16034096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2058925..2059880hg38UCSC Ensembl
Innerchr4:2060652..2061607hg19UCSC Ensembl
Innerchr4:2030450..2031405hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38956
hg19956
hg18956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8908n54
Supporting Variantsnssv988529, nssv988528
Samples
Known GenesNAT8L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593373
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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