A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593165



Internal ID16380574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198004680..198107320hg38UCSC Ensembl
Innerchr3:197731551..197834191hg19UCSC Ensembl
Innerchr3:199215948..199318588hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38102641
hg19102641
hg18102641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987320
Samples
Known GenesANKRD18DP, LMLN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593165
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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