A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052764



Internal ID103023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4857555..4857892hg38UCSC Ensembl
chr12:4966721..4967058hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506854
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052764
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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