A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15468



Internal ID15836726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54028228..54028942hg38UCSC Ensembl
Outerchr7:54027281..54031527hg38UCSC Ensembl
Innerchr7:54095921..54096635hg19UCSC Ensembl
Outerchr7:54094974..54099220hg19UCSC Ensembl
Innerchr7:54063415..54064129hg18UCSC Ensembl
Outerchr7:54062468..54066714hg18UCSC Ensembl
Innerchr7:53870130..53870844hg17UCSC Ensembl
Outerchr7:53869183..53873429hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg384247
hg194247
hg184247
hg174247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8089
Supporting Variants
SamplesNA18564
Known Genes
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)nssv15468
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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