A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058989



Internal ID107194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:60456449..60571829hg38UCSC Ensembl
chr12:60850230..60965610hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38115381
hg19115381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509684
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058989
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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