A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513074



Internal ID15505810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133784364..133786594hg38UCSC Ensembl
Outerchr3:133503208..133505438hg19UCSC Ensembl
Outerchr3:134985898..134988128hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382231
hg192231
hg182231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626560
Samples1
Known GenesSRPRB
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513074
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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