A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360174



Internal ID22585843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2797454..2797505hg38UCSC Ensembl
chr11:2818684..2818735hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5914031
Supporting Variants
Samples
Known GenesKCNQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360174
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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