A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18886



Internal ID15488657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50569766..50585913hg38UCSC Ensembl
Outerchr10:50568499..50586518hg38UCSC Ensembl
Innerchr10:52329526..52345673hg19UCSC Ensembl
Outerchr10:52328259..52346278hg19UCSC Ensembl
Innerchr10:51999532..52015679hg18UCSC Ensembl
Outerchr10:51998265..52016284hg18UCSC Ensembl
Innerchr10:51999532..52015679hg17UCSC Ensembl
Outerchr10:51998265..52016284hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3818020
hg1918020
hg1818020
hg1718020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8660
Supporting Variants
SamplesNA18552
Known GenesSGMS1
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)nssv18886
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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