A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590233



Internal ID16377642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47757210..47787787hg38UCSC Ensembl
Innerchr3:47798700..47829277hg19UCSC Ensembl
Innerchr3:47773704..47804281hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3830578
hg1930578
hg1830578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962989
Samples
Known GenesSMARCC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590233
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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