A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553374



Internal ID15994097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:6616273..6664327hg38UCSC Ensembl
Innerchr11:6637504..6685558hg19UCSC Ensembl
Innerchr11:6594080..6642134hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3848055
hg1948055
hg1848055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv766331
Samples
Known GenesDCHS1, TPP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553374
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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