A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590232



Internal ID16377641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47640391..47724057hg38UCSC Ensembl
Innerchr3:47681881..47765547hg19UCSC Ensembl
Innerchr3:47656885..47740551hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3883667
hg1983667
hg1883667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962988
Samples
Known GenesSMARCC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590232
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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