A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434731



Internal ID213400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218230288..218232569hg38UCSC Ensembl
chr2:219095011..219097292hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382282
hg192282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928199
Samples
Known GenesARPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434731
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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