A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577794



Internal ID16018517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78951366..79472709hg38UCSC Ensembl
Innerchr18:76711366..77232709hg19UCSC Ensembl
Innerchr18:74812354..75333697hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38521344
hg19521344
hg18521344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv888831
Samples
Known GenesATP9B, NFATC1, SALL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577794
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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