A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713400



Internal ID137066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45925999..45927608hg38UCSC Ensembl
chr17:44003365..44004974hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381610
hg191610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524501
Supporting Variants
Samples
Known GenesMAPT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713400
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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