A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19449



Internal ID15831483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47556708..47697486hg38UCSC Ensembl
Innerchr10:48955659..49095491hg19UCSC Ensembl
Innerchr10:48575665..48715497hg18UCSC Ensembl
Innerchr10:48575665..48715497hg17UCSC Ensembl
Outerchr10:48574098..48865564hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38140779
hg19139833
hg18139833
hg17291467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA12740
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)nssv19449
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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