A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591920



Internal ID16032643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142692358..142778109hg38UCSC Ensembl
Innerchr3:142411200..142496951hg19UCSC Ensembl
Innerchr3:143893890..143979641hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3885752
hg1985752
hg1885752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv975219
Samples
Known GenesPLS1, TRPC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591920
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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