A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16931



Internal ID15832145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46749506..46753052hg38UCSC Ensembl
Outerchr10:46749159..46753736hg38UCSC Ensembl
Innerchr10:48148449..48151995hg19UCSC Ensembl
Outerchr10:48148102..48152680hg19UCSC Ensembl
Innerchr10:47768455..47772001hg18UCSC Ensembl
Outerchr10:47768108..47772686hg18UCSC Ensembl
Innerchr10:47768455..47772001hg17UCSC Ensembl
Outerchr10:47768108..47772686hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384578
hg194579
hg184579
hg174579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA12872
Known Genes
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)nssv16931
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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