A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24851



Internal ID15497182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3024956..3202187hg38UCSC Ensembl
Outerchr11:2971449..3205956hg38UCSC Ensembl
Innerchr11:3046186..3223417hg19UCSC Ensembl
Outerchr11:2992679..3227186hg19UCSC Ensembl
Innerchr11:3002762..3179993hg18UCSC Ensembl
Outerchr11:2949255..3183762hg18UCSC Ensembl
Innerchr11:3002762..3179993hg17UCSC Ensembl
Outerchr11:2949255..3183762hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38234508
hg19234508
hg18234508
hg17234508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8766
Supporting Variants
SamplesNA19221
Known GenesCARS, NAP1L4, OSBPL5
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)nssv24851
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