A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530703



Internal ID306675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41142991..41145614hg38UCSC Ensembl
chr19:41648896..41651519hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382624
hg192624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723477
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530703
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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