A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18133



Internal ID15486648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516688..76517913hg38UCSC Ensembl
Outerchr7:76516280..76518298hg38UCSC Ensembl
Innerchr7:76146005..76147230hg19UCSC Ensembl
Outerchr7:76145597..76147615hg19UCSC Ensembl
Innerchr7:75983941..75985166hg18UCSC Ensembl
Outerchr7:75983533..75985551hg18UCSC Ensembl
Innerchr7:75790656..75791881hg17UCSC Ensembl
Outerchr7:75790248..75792266hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382019
hg192019
hg182019
hg172019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8160
Supporting Variants
SamplesNA18504
Known GenesUPK3B
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)nssv18133
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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