A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553371



Internal ID15994094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:6374460..6413235hg38UCSC Ensembl
Innerchr11:6395690..6434465hg19UCSC Ensembl
Innerchr11:6352266..6391041hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3838776
hg1938776
hg1838776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv766328
Samples
Known GenesAPBB1, SMPD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553371
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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