A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724547



Internal ID148213
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 StatusS
Merged Variantsnsv5560011
Supporting Variants
Samples
Known GenesRPL27
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724547
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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