A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23500



Internal ID15839132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71834307..71866949hg38UCSC Ensembl
Outerchr18:71653702..71872133hg38UCSC Ensembl
Innerchr18:69501543..69534185hg19UCSC Ensembl
Outerchr18:69320938..69539369hg19UCSC Ensembl
Innerchr18:67652523..67685165hg18UCSC Ensembl
Outerchr18:67471918..67690349hg18UCSC Ensembl
Innerchr18:67652523..67685165hg17UCSC Ensembl
Outerchr18:67471918..67690349hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38218432
hg19218432
hg18218432
hg17218432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9642
Supporting Variants
SamplesNA18942
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)nssv23500
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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