A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713908



Internal ID137574
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 StatusS
Merged Variantsnsv5514067
Supporting Variants
Samples
Known GenesTUBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713908
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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