A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040059



Internal ID94423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128709841..128709918hg38UCSC Ensembl
chr10:130508105..130508182hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504147
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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