A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21674



Internal ID15834292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48669335..49265739hg19UCSC Ensembl
Outerchr10:48667545..49266529hg19UCSC Ensembl
Innerchr10:48289341..48935745hg18UCSC Ensembl
Outerchr10:48287551..48936535hg18UCSC Ensembl
Innerchr10:48289341..48935745hg17UCSC Ensembl
Outerchr10:48287551..48936535hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg19598985
hg18648985
hg17648985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18517
Known GenesBMS1P1, BMS1P5, CTGLF12P, FAM25C, FAM25G, FRMPD2P1, GLUD1P7, PTPN20A, PTPN20B
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)nssv21674
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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