A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514682



Internal ID291176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14559554..14561808hg38UCSC Ensembl
chr17:14462871..14465125hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg382255
hg192255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711633
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514682
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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