A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040041



Internal ID94412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128503003..128503071hg38UCSC Ensembl
chr10:130301267..130301335hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512818
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040041
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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