A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429033



Internal ID207891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38910631..38910764hg38UCSC Ensembl
chr1:39376303..39376436hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904763
Samples
Known GenesRHBDL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429033
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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