A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20248



Internal ID15842390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47574469..47574499hg38UCSC Ensembl
Outerchr10:47573904..47574812hg38UCSC Ensembl
Innerchr10:47264478..47264508hg19UCSC Ensembl
Outerchr10:47263911..47264821hg19UCSC Ensembl
Innerchr10:46684484..46684514hg18UCSC Ensembl
Outerchr10:46683917..46684827hg18UCSC Ensembl
Innerchr10:46684484..46684514hg17UCSC Ensembl
Outerchr10:46683917..46684827hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38909
hg19911
hg18911
hg17911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19144
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)nssv20248
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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