A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437794



Internal ID216378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201292036..201301432hg38UCSC Ensembl
chr2:202156759..202166155hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg389397
hg199397
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923693
Samples
Known GenesALS2CR12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437794
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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