A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512520



Internal ID15851945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:24323009..24325303hg38UCSC Ensembl
Outerchr18:21902973..21905267hg19UCSC Ensembl
Outerchr18:20156971..20159265hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382295
hg192295
hg182295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625123
Samples1
Known GenesOSBPL1A
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512520
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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