A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055321



Internal ID104719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43044780..43051750hg38UCSC Ensembl
chr12:43438583..43445553hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386971
hg196971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500375
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055321
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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