A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14730



Internal ID15496908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143865267..144083390hg38UCSC Ensembl
Outerchr4:143864561..144084242hg38UCSC Ensembl
Innerchr4:144786420..145004543hg19UCSC Ensembl
Outerchr4:144785714..145005395hg19UCSC Ensembl
Innerchr4:145005870..145223993hg18UCSC Ensembl
Outerchr4:145005164..145224845hg18UCSC Ensembl
Innerchr4:145144025..145362148hg17UCSC Ensembl
Outerchr4:145143319..145363000hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38219682
hg19219682
hg18219682
hg17219682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10584
Supporting Variants
SamplesNA19221
Known GenesGYPB, GYPE
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)nssv14730
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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