A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8182



Internal ID15499408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100202193..100282158hg38UCSC Ensembl
Outerchr7:99799816..99879781hg19UCSC Ensembl
Outerchr7:99637752..99717717hg18UCSC Ensembl
Outerchr7:99444467..99524432hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3879966
hg1979966
hg1879966
hg1779966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15542, nssv19470, nssv16023, nssv15656, nssv16368, nssv18794, nssv18223, nssv16599, nssv15885
SamplesNA07029, NA18504, NA07048, NA19007, NA19221, NA18537, NA18517, NA18564, NA12740
Known GenesGATS, PVRIG, STAG3
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)nsv8182
Frequency
Sample Size31
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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