A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21751



Internal ID15844804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122582945..122598732hg38UCSC Ensembl
Outerchr10:122580742..122598789hg38UCSC Ensembl
Innerchr10:124342461..124358248hg19UCSC Ensembl
Outerchr10:124340258..124358305hg19UCSC Ensembl
Innerchr10:124332451..124348238hg18UCSC Ensembl
Outerchr10:124330248..124348295hg18UCSC Ensembl
Innerchr10:124332451..124348238hg17UCSC Ensembl
Outerchr10:124330248..124348295hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3818048
hg1918048
hg1818048
hg1718048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8731
Supporting Variants
SamplesNA19240
Known GenesDMBT1
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)nssv21751
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