A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501121



Internal ID278030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73953289..73954684hg38UCSC Ensembl
chr11:73664334..73665729hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381396
hg191396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048351
Samples
Known GenesDNAJB13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501121
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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