A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056749



Internal ID105665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46738862..46738936hg38UCSC Ensembl
chr12:47132645..47132719hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502879
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056749
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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