A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437591



Internal ID216176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162432532..162482103hg38UCSC Ensembl
chr2:163289042..163338613hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3849572
hg1949572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921401
Samples
Known GenesKCNH7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437591
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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