A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10787



Internal ID15499064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180290724..180305388hg38UCSC Ensembl
Outerchr5:179717724..179732388hg19UCSC Ensembl
Outerchr5:179650330..179664994hg18UCSC Ensembl
Outerchr5:179650330..179664994hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3814665
hg1914665
hg1814665
hg1714665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13897, nssv14918, nssv13854
SamplesNA11830, NA12155, NA18975
Known GenesGFPT2, MAPK9
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)nsv10787
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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