A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22736



Internal ID15495576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20876092..20887192hg38UCSC Ensembl
Outerchr14:20875521..20888045hg38UCSC Ensembl
Innerchr14:21344251..21355351hg19UCSC Ensembl
Outerchr14:21343680..21356204hg19UCSC Ensembl
Innerchr14:20414091..20425191hg18UCSC Ensembl
Outerchr14:20413520..20426044hg18UCSC Ensembl
Innerchr14:20414091..20425191hg17UCSC Ensembl
Outerchr14:20413520..20426044hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3812525
hg1912525
hg1812525
hg1712525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9121
Supporting Variants
SamplesNA19144
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)nssv22736
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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