A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054444



Internal ID104130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18025858..18029033hg38UCSC Ensembl
chr12:18178792..18181967hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg383176
hg193176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512324
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054444
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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