A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028966



Internal ID87014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6200110..6200210hg38UCSC Ensembl
chr10:6242073..6242173hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5493626
Supporting Variants
Samples
Known GenesPFKFB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028966
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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