A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689529



Internal ID113195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81776737..81776788hg38UCSC Ensembl
chr12:82170516..82170567hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425787
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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