A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512104



Internal ID15504843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:76304405..76307289hg38UCSC Ensembl
Outerchr9:78919321..78922205hg19UCSC Ensembl
Outerchr9:78109141..78112025hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382885
hg192885
hg182885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624661
Samples1
Known GenesPCSK5
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512104
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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