A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8083



Internal ID15845995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:46862451..47058072hg38UCSC Ensembl
Outerchr7:46902049..47097670hg19UCSC Ensembl
Outerchr7:46868574..47064195hg18UCSC Ensembl
Outerchr7:46675289..46870910hg17UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38195622
hg19195622
hg18195622
hg17195622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15899
SamplesNA19173
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)nsv8083
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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