A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18888



Internal ID15836429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46386294..46386370hg38UCSC Ensembl
Outerchr10:46386001..46386624hg38UCSC Ensembl
Innerchr10:47757554..47757630hg19UCSC Ensembl
Outerchr10:47757261..47757884hg19UCSC Ensembl
Innerchr10:47227560..47227636hg18UCSC Ensembl
Outerchr10:47227267..47227890hg18UCSC Ensembl
Innerchr10:47227560..47227636hg17UCSC Ensembl
Outerchr10:47227267..47227890hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38624
hg19624
hg18624
hg17624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18564
Known GenesANXA8L1, ANXA8L2
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)nssv18888
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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