A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590028



Internal ID16377437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:30684284..30705376hg38UCSC Ensembl
Innerchr3:30725776..30746868hg19UCSC Ensembl
Innerchr3:30700780..30721872hg18UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3821093
hg1921093
hg1821093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv960943
Samples
Known GenesTGFBR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590028
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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