A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16993692



Internal ID63253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12474780..12525094hg38UCSC Ensembl
chr7:12514406..12564720hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3850315
hg1950315
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470884
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16993692
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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