A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593371



Internal ID16034094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2058874..2060010hg38UCSC Ensembl
Innerchr4:2060601..2061737hg19UCSC Ensembl
Innerchr4:2030399..2031535hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381137
hg191137
hg181137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8908n54
Supporting Variantsnssv988525, nssv988526
Samples
Known GenesNAT8L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593371
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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