A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720339



Internal ID144005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2084914..2090961hg38UCSC Ensembl
chr19:2084913..2090960hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386048
hg196048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520557
Supporting Variants
Samples
Known GenesMOB3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720339
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003599


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