A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560011



Internal ID333029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43000543..43002190hg38UCSC Ensembl
chr17:41152560..41154207hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381648
hg191648
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724547
Samples
Known GenesRPL27
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560011
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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