A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684033



Internal ID107699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89374451..89374522hg38UCSC Ensembl
chr12:89768228..89768299hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513603
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684033
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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