A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056730



Internal ID105653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46418130..46418181hg38UCSC Ensembl
chr12:46811913..46811964hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417133
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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