A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8238



Internal ID15846150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154903847..154906425hg38UCSC Ensembl
Outerchr7:154695557..154698135hg19UCSC Ensembl
Outerchr7:154326490..154329068hg18UCSC Ensembl
Outerchr7:154133205..154135783hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg382579
hg192579
hg182579
hg172579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16683
SamplesNA07048
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv8238
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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