A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512489



Internal ID15851914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43303835..43388643hg38UCSC Ensembl
Outerchr17:41381184..41466011hg19UCSC Ensembl
Outerchr17:38736710..38821537hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3884809
hg1984828
hg1884828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625089
Samples1
Known GenesLINC00910
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512489
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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