A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8212



Internal ID15846124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:127135498..127141587hg38UCSC Ensembl
Outerchr7:126775552..126781641hg19UCSC Ensembl
Outerchr7:126562788..126568877hg18UCSC Ensembl
Outerchr7:126369503..126375592hg17UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg386090
hg196090
hg186090
hg176090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192, nssv18463
SamplesNA18502, NA18504
Known GenesGRM8
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)nsv8212
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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