A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513068



Internal ID15505804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:120174166..120176882hg38UCSC Ensembl
Outerchr3:119893013..119895729hg19UCSC Ensembl
Outerchr3:121375703..121378419hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg382717
hg192717
hg182717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626553
Samples1
Known GenesGPR156
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513068
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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