A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559567



Internal ID332597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41858130..41862812hg38UCSC Ensembl
chr17:40014382..40019065hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384683
hg194684
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713215
Samples
Known GenesKLHL11
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559567
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer