A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21271



Internal ID15844751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47556708..47562556hg38UCSC Ensembl
Outerchr10:47555125..47563294hg38UCSC Ensembl
Innerchr10:48955659..48961481hg19UCSC Ensembl
Outerchr10:48954092..48962219hg19UCSC Ensembl
Innerchr10:48575665..48581487hg18UCSC Ensembl
Outerchr10:48574098..48582225hg18UCSC Ensembl
Innerchr10:48575665..48581487hg17UCSC Ensembl
Outerchr10:48574098..48582225hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg388170
hg198128
hg188128
hg178128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19240
Known GenesGLUD1P7
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)nssv21271
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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