A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511915



Internal ID288483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2784555..2784653hg38UCSC Ensembl
chr11:2805785..2805883hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042108
Samples
Known GenesKCNQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511915
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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