A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908546



Internal ID6488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99247704..99258385hg38UCSC Ensembl
chr1:99713260..99723941hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3810682
hg1910682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426867
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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