A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19135



Internal ID15494243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49973019..50011654hg38UCSC Ensembl
Outerchr10:49972459..50012507hg38UCSC Ensembl
Innerchr10:51732779..51771414hg19UCSC Ensembl
Outerchr10:51732219..51772267hg19UCSC Ensembl
Innerchr10:51402785..51441420hg18UCSC Ensembl
Outerchr10:51402225..51442273hg18UCSC Ensembl
Innerchr10:51402785..51441420hg17UCSC Ensembl
Outerchr10:51402225..51442273hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3840049
hg1940049
hg1840049
hg1740049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8655
Supporting Variants
SamplesNA18980
Known GenesAGAP6
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)nssv19135
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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