A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593370



Internal ID16380779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2058790..2059828hg38UCSC Ensembl
Innerchr4:2060517..2061555hg19UCSC Ensembl
Innerchr4:2030315..2031353hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381039
hg191039
hg181039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8907n54
Supporting Variantsnssv988524
Samples
Known GenesNAT8L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593370
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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