A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047649



Internal ID99641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68823806..68823841hg38UCSC Ensembl
chr11:68591274..68591309hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551523
Supporting Variants
Samples
Known GenesCPT1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002185


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