A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056801



Internal ID105702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47339659..47340728hg38UCSC Ensembl
chr12:47733442..47734511hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381070
hg191070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500489
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056801
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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