A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439636



Internal ID218171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201344341..201359800hg38UCSC Ensembl
chr2:202209064..202224523hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3815460
hg1915460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923701
Samples
Known GenesALS2CR12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439636
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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