A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17942



Internal ID15827613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47463771..47481159hg38UCSC Ensembl
Outerchr10:47463219..47481608hg38UCSC Ensembl
Innerchr10:48258203..48275591hg19UCSC Ensembl
Outerchr10:48257754..48276143hg19UCSC Ensembl
Innerchr10:47878209..47895597hg18UCSC Ensembl
Outerchr10:47877760..47896149hg18UCSC Ensembl
Innerchr10:47878209..47895597hg17UCSC Ensembl
Outerchr10:47877760..47896149hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3818390
hg1918390
hg1818390
hg1718390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA07029
Known GenesANXA8
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)nssv17942
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