A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8142



Internal ID15499368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74763448..74794847hg38UCSC Ensembl
Outerchr7:74177793..74209187hg19UCSC Ensembl
Outerchr7:73815729..73847123hg18UCSC Ensembl
Outerchr7:73622444..73653838hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3831400
hg1931395
hg1831395
hg1731395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18930
SamplesNA19221
Known GenesNCF1
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)nsv8142
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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