A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558271



Internal ID331340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17581480..17581531hg38UCSC Ensembl
chr17:17484794..17484845hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381078
hg191078
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711860
Samples
Known GenesPEMT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558271
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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