A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720113



Internal ID143779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:723509..804663hg38UCSC Ensembl
chr19:723509..804663hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3881155
hg1981155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145562
Supporting Variants
Samples
Known GenesMISP, PALM, PTBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720113
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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