A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731414



Internal ID155080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19225100..19226892hg38UCSC Ensembl
chr20:19205744..19207536hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381793
hg191793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520649
Supporting Variants
Samples
Known GenesSLC24A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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