A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529780



Internal ID305786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51307980..51329990hg38UCSC Ensembl
chr17:49385341..49407351hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3822011
hg1922011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713596
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529780
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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