A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503102



Internal ID279946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123642769..123643447hg38UCSC Ensembl
chr11:123513477..123514155hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38679
hg19679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051494
Samples
Known GenesSCN3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503102
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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