A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419245



Internal ID198383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38935994..38938879hg38UCSC Ensembl
chr1:39401666..39404551hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382886
hg192886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904764
Samples
Known GenesRHBDL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419245
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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