A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512033



Internal ID15504772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18597054..18598726hg38UCSC Ensembl
Outerchr8:18454564..18456236hg19UCSC Ensembl
Outerchr8:18498844..18500516hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381673
hg191673
hg181673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624582
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)nsv512033
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer