A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720508



Internal ID144174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2990245..2990279hg38UCSC Ensembl
chr19:2990243..2990277hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534647
Supporting Variants
Samples
Known GenesTLE6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720508
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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