A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563189



Internal ID336126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8789436..8805446hg38UCSC Ensembl
chr17:8692754..8708764hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3816011
hg1916011
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711291
Samples
Known GenesMFSD6L, PIK3R6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563189
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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