A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502231



Internal ID279105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62700546..62703886hg38UCSC Ensembl
chr11:62468018..62471358hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg383341
hg193341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047869
Samples
Known GenesBSCL2, HNRNPUL2-BSCL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502231
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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