A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686565



Internal ID110231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30030037..30030088hg38UCSC Ensembl
chr13:30604174..30604225hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428144
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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