A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896075



Internal ID171533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211085370..211085421hg38UCSC Ensembl
chr1:211258712..211258763hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557651
Supporting Variants
Samples
Known GenesKCNH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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