A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497485



Internal ID274518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50242783..50242860hg38UCSC Ensembl
chr13:50816919..50816996hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687695
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497485
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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