A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22253



Internal ID15492858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50598515..50599488hg38UCSC Ensembl
Outerchr10:50597149..50600629hg38UCSC Ensembl
Innerchr10:52358275..52359248hg19UCSC Ensembl
Outerchr10:52356909..52360389hg19UCSC Ensembl
Innerchr10:52028281..52029254hg18UCSC Ensembl
Outerchr10:52026915..52030395hg18UCSC Ensembl
Innerchr10:52028281..52029254hg17UCSC Ensembl
Outerchr10:52026915..52030395hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg383481
hg193481
hg183481
hg173481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8661
Supporting Variants
SamplesNA18972
Known GenesSGMS1
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)nssv22253
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer