A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512075



Internal ID15851500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140620803..140623855hg38UCSC Ensembl
Outerchr8:141630902..141633954hg19UCSC Ensembl
Outerchr8:141700084..141703136hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383053
hg193053
hg183053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624629
Samples1
Known GenesAGO2, RNU6-31P
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512075
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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