A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999630



Internal ID17292582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119258291..119268190hg38UCSC Ensembl
Outerchr11:119129001..119138900hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg389900
hg199900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952746
Supporting Variants
SamplesBILGI_BIOE
Known GenesCBL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999630
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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