A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17299



Internal ID15836992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47569389..47570983hg38UCSC Ensembl
Outerchr10:47568420..47571417hg38UCSC Ensembl
Innerchr10:48968317..48969932hg19UCSC Ensembl
Outerchr10:48967351..48970354hg19UCSC Ensembl
Innerchr10:48588323..48589938hg18UCSC Ensembl
Outerchr10:48587357..48590360hg18UCSC Ensembl
Innerchr10:48588323..48589938hg17UCSC Ensembl
Outerchr10:48587357..48590360hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382998
hg193004
hg183004
hg173004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18572
Known Genes
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)nssv17299
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