A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13392



Internal ID15833093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102898689..102950016hg38UCSC Ensembl
Outerchr4:102898020..102950625hg38UCSC Ensembl
Innerchr4:103819846..103871173hg19UCSC Ensembl
Outerchr4:103819177..103871782hg19UCSC Ensembl
Innerchr4:104039295..104090622hg18UCSC Ensembl
Outerchr4:104038626..104091231hg18UCSC Ensembl
Innerchr4:104177450..104228777hg17UCSC Ensembl
Outerchr4:104176781..104229386hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3852606
hg1952606
hg1852606
hg1752606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10542
Supporting Variants
SamplesNA18502
Known GenesSLC9B1
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)nssv13392
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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