A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507858



Internal ID284567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126235685..126239621hg38UCSC Ensembl
chr11:126105580..126109516hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg383937
hg193937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053491
Samples
Known GenesFAM118B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507858
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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