A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500511



Internal ID277444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50100007..50100353hg38UCSC Ensembl
chr13:50674143..50674489hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687687
Samples
Known GenesDLEU1, DLEU2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500511
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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