A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514067



Internal ID290570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59862626..59890330hg38UCSC Ensembl
chr17:57939987..57967691hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3827705
hg1927705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713908
Samples
Known GenesTUBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514067
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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