A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521514



Internal ID297808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11882731..11882801hg38UCSC Ensembl
chr17:11786048..11786118hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711459
Samples
Known GenesDNAH9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521514
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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