A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9591



Internal ID15847503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36104675..36118761hg38UCSC Ensembl
Outerchr2:36331818..36345904hg19UCSC Ensembl
Outerchr2:36185322..36199408hg18UCSC Ensembl
Outerchr2:36243469..36257555hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3814087
hg1914087
hg1814087
hg1714087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25182, nssv27024, nssv27631, nssv26867, nssv24577
SamplesNA18563, NA18942, NA18975, NA19007, NA18552
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)nsv9591
Frequency
Sample Size31
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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