A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593174



Internal ID16380583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198035752..198137592hg38UCSC Ensembl
Innerchr3:197762623..197864463hg19UCSC Ensembl
Innerchr3:199247020..199348860hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38101841
hg19101841
hg18101841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8869n54
Supporting Variantsnssv987330
Samples
Known GenesANKRD18DP, LMLN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593174
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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