A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001478



Internal ID68583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:119619754..119619754hg38UCSC Ensembl
chr7:119259808..119259808hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403189
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.156916


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