A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056477



Internal ID105472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50295172..50305696hg38UCSC Ensembl
chr12:50688955..50699479hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3810525
hg1910525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513359
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056477
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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