A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18141



Internal ID15838050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:77152122..77158942hg38UCSC Ensembl
Outerchr7:77151739..77162944hg38UCSC Ensembl
Innerchr7:76781439..76788259hg19UCSC Ensembl
Outerchr7:76781056..76792261hg19UCSC Ensembl
Innerchr7:76619375..76626195hg18UCSC Ensembl
Outerchr7:76618992..76630197hg18UCSC Ensembl
Innerchr7:76426090..76432910hg17UCSC Ensembl
Outerchr7:76425707..76436912hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3811206
hg1911206
hg1811206
hg1711206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8166
Supporting Variants
SamplesNA18860
Known GenesCCDC146
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)nssv18141
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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