A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055257



Internal ID104675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42206549..42207831hg38UCSC Ensembl
chr12:42600351..42601633hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500002
Supporting Variants
Samples
Known GenesYAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055257
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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