A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591801



Internal ID16032524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133382546..133403372hg38UCSC Ensembl
Innerchr3:133101390..133122216hg19UCSC Ensembl
Innerchr3:134584080..134604906hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3820827
hg1920827
hg1820827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152022
SamplesNINDS_88
Known GenesBFSP2, TMEM108
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591801
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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