A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366113



Internal ID22591782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2793406..2793476hg38UCSC Ensembl
chr11:2814636..2814706hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5908552
Supporting Variants
Samples
Known GenesKCNQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366113
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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