A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725378



Internal ID149044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51321034..51321999hg38UCSC Ensembl
chr19:51824288..51825253hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38966
hg19966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514439
Supporting Variants
Samples
Known GenesIGLON5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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