A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725095



Internal ID148761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41990078..41990183hg38UCSC Ensembl
chr19:42494230..42494335hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533238
Supporting Variants
Samples
Known GenesATP1A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725095
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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