A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497676



Internal ID274701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62701758..62701814hg38UCSC Ensembl
chr11:62469230..62469286hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047870
Samples
Known GenesBSCL2, HNRNPUL2-BSCL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497676
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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