A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590383



Internal ID16377792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:59786616..59841664hg38UCSC Ensembl
Innerchr3:59772342..59827390hg19UCSC Ensembl
Innerchr3:59747382..59802430hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3855049
hg1955049
hg1855049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8340n54
Supporting Variantsnssv1151895
SamplesNINDS_206
Known GenesFHIT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590383
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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