A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv988524



Internal ID16282480
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 StatusS
Merged Variantsnsv593370
Supporting Variants
Samples
Known GenesNAT8L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv988524
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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