A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438100



Internal ID216671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225420117..225421222hg38UCSC Ensembl
chr1:225607819..225608924hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381106
hg191106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897384
Samples
Known GenesLBR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438100
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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