A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512500



Internal ID15851925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70458591..70465248hg38UCSC Ensembl
Outerchr17:68454732..68461389hg19UCSC Ensembl
Outerchr17:65966327..65972984hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg386658
hg196658
hg186658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625101
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512500
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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