A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057748



Internal ID106354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61633512..61636464hg38UCSC Ensembl
chr12:62027293..62030245hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382953
hg192953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501729
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057748
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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