A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964232



Internal ID43460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34876463..34876544hg38UCSC Ensembl
chr5:34876568..34876649hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140564
Supporting Variants
Samples
Known GenesTTC23L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007367


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