A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24939



Internal ID15831032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14460810..14475761hg38UCSC Ensembl
Outerchr18:14460323..14476198hg38UCSC Ensembl
Innerchr18:14460809..14475760hg19UCSC Ensembl
Outerchr18:14460322..14476197hg19UCSC Ensembl
Innerchr18:14450809..14465760hg18UCSC Ensembl
Outerchr18:14450322..14466197hg18UCSC Ensembl
Innerchr18:14450809..14465760hg17UCSC Ensembl
Outerchr18:14450322..14466197hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3815876
hg1915876
hg1815876
hg1715876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9615
Supporting Variants
SamplesNA12740
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)nssv24939
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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