A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986727



Internal ID21896070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154743029..154788874hg38UCSC Ensembl
chr2:155599541..155645386hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3845846
hg1945846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518141
Samples
Known GenesKCNJ3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986727
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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