A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8236



Internal ID15499462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149487046..149525924hg38UCSC Ensembl
Outerchr1:148588704..148594391hg19UCSC Ensembl
Outerchr1:146855328..146861015hg18UCSC Ensembl
Outerchr1:145368296..145373983hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3838879
hg195688
hg185688
hg175688
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22418, nssv18084
SamplesNA12155, NA18975
Known GenesLOC101929780, NBPF15, NBPF16
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)nsv8236
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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