A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223



Internal ID15486716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100271318..100271349hg38UCSC Ensembl
Outerchr7:100270859..100271928hg38UCSC Ensembl
Innerchr7:99868941..99868972hg19UCSC Ensembl
Outerchr7:99868482..99869551hg19UCSC Ensembl
Innerchr7:99706877..99706908hg18UCSC Ensembl
Outerchr7:99706418..99707487hg18UCSC Ensembl
Innerchr7:99513592..99513623hg17UCSC Ensembl
Outerchr7:99513133..99514202hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381070
hg191070
hg181070
hg171070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8182
Supporting Variants
SamplesNA18504
Known GenesGATS
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)nssv18223
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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