A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504814



Internal ID281608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33727385..33727465hg38UCSC Ensembl
chr13:34301522..34301602hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686777
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504814
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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