A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19301



Internal ID15832241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18923714..18958834hg38UCSC Ensembl
Outerchr14:18923252..18960131hg38UCSC Ensembl
Innerchr14:19509473..19544741hg19UCSC Ensembl
Outerchr14:19509011..19546038hg19UCSC Ensembl
Innerchr14:18579473..18614741hg18UCSC Ensembl
Outerchr14:18579011..18616038hg18UCSC Ensembl
Innerchr14:18579473..18614741hg17UCSC Ensembl
Outerchr14:18579011..18616038hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3836880
hg1937028
hg1837028
hg1737028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA12872
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)nssv19301
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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