A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593178



Internal ID16380587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198168612..198191278hg38UCSC Ensembl
Innerchr3:197895483..197918149hg19UCSC Ensembl
Innerchr3:199379880..199402546hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3822667
hg1922667
hg1822667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987336
Samples
Known GenesFAM157A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593178
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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