A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20523



Internal ID15481384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48314861..48316747hg38UCSC Ensembl
Outerchr12:48314308..48317562hg38UCSC Ensembl
Innerchr12:48708644..48710530hg19UCSC Ensembl
Outerchr12:48708091..48711345hg19UCSC Ensembl
Innerchr12:46994911..46996797hg18UCSC Ensembl
Outerchr12:46994358..46997612hg18UCSC Ensembl
Innerchr12:46994911..46996797hg17UCSC Ensembl
Outerchr12:46994358..46997612hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383255
hg193255
hg183255
hg173255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8971
Supporting Variants
SamplesNA07048
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)nssv20523
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