A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056515



Internal ID105495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54654404..54657736hg38UCSC Ensembl
chr12:55048188..55051520hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383333
hg193333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507788
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056515
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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