A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22551



Internal ID15491676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45921624..45921771hg38UCSC Ensembl
Outerchr10:45921469..45921862hg38UCSC Ensembl
Innerchr10:51320525..51320672hg19UCSC Ensembl
Outerchr10:51320370..51320763hg19UCSC Ensembl
Innerchr10:50990531..50990678hg18UCSC Ensembl
Outerchr10:50990376..50990769hg18UCSC Ensembl
Innerchr10:50990531..50990678hg17UCSC Ensembl
Outerchr10:50990376..50990769hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38394
hg19394
hg18394
hg17394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8645
Supporting Variants
SamplesNA18860
Known GenesLOC728407, PARG
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)nssv22551
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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