A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519464



Internal ID295812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19358584..19362920hg38UCSC Ensembl
chr17:19261897..19266233hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384337
hg194337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711998
Samples
Known GenesB9D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519464
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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