A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056932



Internal ID105793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53801776..53801842hg38UCSC Ensembl
chr12:54195560..54195626hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497953
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056932
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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