A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591802



Internal ID16032525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133413620..133416158hg38UCSC Ensembl
Innerchr3:133132464..133135002hg19UCSC Ensembl
Innerchr3:134615154..134617692hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382539
hg192539
hg182539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8605n54
Supporting Variantsnssv974192
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591802
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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