A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192



Internal ID15833191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:127136297..127140766hg38UCSC Ensembl
Outerchr7:127135498..127141587hg38UCSC Ensembl
Innerchr7:126776351..126780820hg19UCSC Ensembl
Outerchr7:126775552..126781641hg19UCSC Ensembl
Innerchr7:126563587..126568056hg18UCSC Ensembl
Outerchr7:126562788..126568877hg18UCSC Ensembl
Innerchr7:126370302..126374771hg17UCSC 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 StatusS
Merged Variantsnsv8212
Supporting Variants
SamplesNA18502
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)nssv18192
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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