A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593368



Internal ID16380777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2058728..2059880hg38UCSC Ensembl
Innerchr4:2060455..2061607hg19UCSC Ensembl
Innerchr4:2030253..2031405hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381153
hg191153
hg181153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8907n54
Supporting Variantsnssv988513, nssv988514
Samples
Known GenesNAT8L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593368
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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