A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713530



Internal ID137196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47941980..47947980hg38UCSC Ensembl
chr17:46019346..46025346hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145499
Supporting Variants
Samples
Known GenesPNPO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00097


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