A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590050



Internal ID16030773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:33060889..33117420hg38UCSC Ensembl
Innerchr3:33102381..33158912hg19UCSC Ensembl
Innerchr3:33077385..33133916hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3856532
hg1956532
hg1856532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962129
Samples
Known GenesCRTAP, GLB1, TMPPE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590050
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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