A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557180



Internal ID330287
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 StatusM
Merged Variants
Supporting Variantsnssv17731421
Samples
Known GenesSLC24A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557180
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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