A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593116



Internal ID16033839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197183211..197617305hg38UCSC Ensembl
Innerchr3:196910082..197344176hg19UCSC Ensembl
Innerchr3:198394479..198828573hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38434095
hg19434095
hg18434095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153421, nssv1153420
SamplesHGDP00574, HGDP00572
Known GenesBDH1, DLG1, DLG1-AS1, LOC220729, MIR4797
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593116
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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