A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002837



Internal ID69510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96557906..96557957hg38UCSC Ensembl
chr7:96187218..96187269hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397705
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002837
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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