A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576246



Internal ID16363655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:841320..1785170hg38UCSC Ensembl
Innerchr18:841321..1785171hg19UCSC Ensembl
Innerchr18:831321..1775171hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38943851
hg19943851
hg18943851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5811n54
Supporting Variantsnssv877298
Samples
Known GenesADCYAP1, LINC00470
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576246
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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