A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952740



Internal ID16954927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117636686..117644985hg38UCSC Ensembl
Outerchr11:117507401..117515700hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg388300
hg198300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999625
SamplesBILGI_BIOE
Known GenesDSCAML1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952740
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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