A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999632



Internal ID17292584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:122686893..122699192hg38UCSC Ensembl
Outerchr11:122557601..122569900hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3812300
hg1912300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952748
Supporting Variants
SamplesBILGI_BIOE
Known GenesUBASH3B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999632
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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