A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10700



Internal ID15845663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:57981656..58017883hg38UCSC Ensembl
Outerchr5:57277483..57313710hg19UCSC Ensembl
Outerchr5:57313240..57349467hg18UCSC Ensembl
Outerchr5:57313240..57349467hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3836228
hg1936228
hg1836228
hg1736228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12802
SamplesNA18942
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)nsv10700
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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