A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20671



Internal ID15844690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46370005..46582455hg38UCSC Ensembl
Outerchr10:46369985..46582769hg38UCSC Ensembl
Innerchr10:46967162..47180770hg19UCSC Ensembl
Outerchr10:46966848..47180790hg19UCSC Ensembl
Innerchr10:46387168..46600776hg18UCSC Ensembl
Outerchr10:46386854..46600796hg18UCSC Ensembl
Innerchr10:46387168..46600776hg17UCSC Ensembl
Outerchr10:46386854..46600796hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38212785
hg19213943
hg18213943
hg17213943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19240
Known GenesANXA8, FAM25C, FAM25G, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
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)nssv20671
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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