A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043711



Internal ID96867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18406737..18439526hg38UCSC Ensembl
chr11:18428284..18461073hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3832790
hg1932790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507420
Supporting Variants
Samples
Known GenesLDHA, LDHC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043711
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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