A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23924



Internal ID15498189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20882761..20946688hg38UCSC Ensembl
Outerchr14:20880784..20947336hg38UCSC Ensembl
Innerchr14:21350920..21414847hg19UCSC Ensembl
Outerchr14:21348943..21415495hg19UCSC Ensembl
Innerchr14:20420760..20484687hg18UCSC Ensembl
Outerchr14:20418783..20485335hg18UCSC Ensembl
Innerchr14:20420760..20484687hg17UCSC Ensembl
Outerchr14:20418783..20485335hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3866553
hg1966553
hg1866553
hg1766553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9121
Supporting Variants
SamplesNA19240
Known GenesECRP, RNASE3
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)nssv23924
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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