A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557937



Internal ID331015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17701586..17702011hg38UCSC Ensembl
chr20:17682231..17682656hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731320
Samples
Known GenesBANF2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557937
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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