A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725180



Internal ID148846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43481433..43500064hg38UCSC Ensembl
chr19:43985585..44004216hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3818632
hg1918632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527825
Supporting Variants
Samples
Known GenesPHLDB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725180
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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