A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556456



Internal ID329593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46583227..46588901hg38UCSC Ensembl
chr20:45211866..45217540hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg385675
hg195675
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732679
Samples
Known GenesSLC13A3
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556456
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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