A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8694



Internal ID15846606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:79552546..79614113hg38UCSC Ensembl
Outerchr10:81312302..81373869hg19UCSC Ensembl
Outerchr10:80982308..81043875hg18UCSC Ensembl
Outerchr10:80982308..81043875hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3861568
hg1961568
hg1861568
hg1761568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24379
SamplesNA19221
Known GenesSFTPA1, SFTPA2
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)nsv8694
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