A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144150



Internal ID343354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2798000..2830000hg38UCSC Ensembl
chr11:2819230..2851230hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3832001
hg1932001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042110
Samples
Known GenesKCNQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144150
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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