A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452677



Internal ID230823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162494099..162496433hg38UCSC Ensembl
chr2:163350609..163352943hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg382335
hg192335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921404
Samples
Known GenesKCNH7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452677
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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