A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21548



Internal ID15483888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48314861..48315617hg38UCSC Ensembl
Outerchr12:48314308..48316234hg38UCSC Ensembl
Innerchr12:48708644..48709400hg19UCSC Ensembl
Outerchr12:48708091..48710017hg19UCSC Ensembl
Innerchr12:46994911..46995667hg18UCSC Ensembl
Outerchr12:46994358..46996284hg18UCSC Ensembl
Innerchr12:46994911..46995667hg17UCSC Ensembl
Outerchr12:46994358..46996284hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381927
hg191927
hg181927
hg171927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8971
Supporting Variants
SamplesNA12155
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)nssv21548
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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