A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999488



Internal ID67230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:85213316..85521295hg38UCSC Ensembl
chr7:84842632..85150611hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38307980
hg19307980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474510
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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