A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731421



Internal ID155087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19496016..19496067hg38UCSC Ensembl
chr20:19476660..19476711hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557180
Supporting Variants
Samples
Known GenesSLC24A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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