A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19005



Internal ID15834689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46378841..46391044hg38UCSC Ensembl
Outerchr10:46378637..46391667hg38UCSC Ensembl
Innerchr10:47750101..47762301hg19UCSC Ensembl
Outerchr10:47749897..47762924hg19UCSC Ensembl
Innerchr10:47220107..47232307hg18UCSC Ensembl
Outerchr10:47219903..47232930hg18UCSC Ensembl
Innerchr10:47220107..47232307hg17UCSC Ensembl
Outerchr10:47219903..47232930hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3813031
hg1913028
hg1813028
hg1713028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18537
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)nssv19005
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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