A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986124



Internal ID21895467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127514706..127518861hg38UCSC Ensembl
chr2:128272282..128276437hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg384156
hg194156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525263
Samples
Known GenesIWS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986124
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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