A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593369



Internal ID16380778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2058728..2060010hg38UCSC Ensembl
Innerchr4:2060455..2061737hg19UCSC Ensembl
Innerchr4:2030253..2031535hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381283
hg191283
hg181283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8907n54
Supporting Variantsnssv988523, nssv988519, nssv988515, nssv988518, nssv988521, nssv988522, nssv988520, nssv988516, nssv988517
Samples
Known GenesNAT8L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593369
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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