A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512069



Internal ID15851494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130838227..130840498hg38UCSC Ensembl
Outerchr8:131850473..131852744hg19UCSC Ensembl
Outerchr8:131919655..131921926hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg382272
hg192272
hg182272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624623
Samples1
Known GenesADCY8
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512069
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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