A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16593



Internal ID15827901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142787007..142795749hg38UCSC Ensembl
Outerchr7:142786341..142797721hg38UCSC Ensembl
Innerchr7:142194819..142203561hg18UCSC Ensembl
Outerchr7:142194153..142205533hg18UCSC Ensembl
Innerchr7:142001534..142010276hg17UCSC Ensembl
Outerchr7:142000868..142012248hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3811381
hg1811381
hg1711381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8226
Supporting Variants
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)nssv16593
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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