A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22993



Internal ID15492883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:34891947..34907380hg38UCSC Ensembl
Outerchr11:34890620..34908742hg38UCSC Ensembl
Innerchr11:34913494..34928927hg19UCSC Ensembl
Outerchr11:34912167..34930289hg19UCSC Ensembl
Innerchr11:34870070..34885503hg18UCSC Ensembl
Outerchr11:34868743..34886865hg18UCSC Ensembl
Innerchr11:34870070..34885503hg17UCSC Ensembl
Outerchr11:34868743..34886865hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3818123
hg1918123
hg1818123
hg1718123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8807
Supporting Variants
SamplesNA18972
Known GenesAPIP
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)nssv22993
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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