A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592886



Internal ID16380295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192671511..192677630hg38UCSC Ensembl
Innerchr3:192389300..192395419hg19UCSC Ensembl
Innerchr3:193871994..193878113hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg386120
hg196120
hg186120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8806n54
Supporting Variantsnssv984197
Samples
Known GenesFGF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592886
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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