A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512034



Internal ID15504773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18793399..18795416hg38UCSC Ensembl
Outerchr8:18650909..18652926hg19UCSC Ensembl
Outerchr8:18695189..18697206hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382018
hg192018
hg182018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624583
Samples1
Known GenesPSD3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512034
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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