A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8937



Internal ID15846849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30304229..30309565hg38UCSC Ensembl
Outerchr12:30457162..30462498hg19UCSC Ensembl
Outerchr12:30348429..30353765hg18UCSC Ensembl
Outerchr12:30348429..30353765hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg385337
hg195337
hg185337
hg175337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18671, nssv20688, nssv18935
SamplesNA10847, NA12872, NA18564
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)nsv8937
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