A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19672



Internal ID15838870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19456346..19488486hg38UCSC Ensembl
Outerchr14:19456276..19489017hg38UCSC Ensembl
Innerchr14:20042105..20074239hg19UCSC Ensembl
Outerchr14:20042035..20074770hg19UCSC Ensembl
Innerchr14:19112105..19144239hg18UCSC Ensembl
Outerchr14:19112035..19144770hg18UCSC Ensembl
Innerchr14:19112105..19144239hg17UCSC Ensembl
Outerchr14:19112035..19144770hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3832742
hg1932736
hg1832736
hg1732736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
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)nssv19672
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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