A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056528



Internal ID105506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54749687..54753228hg38UCSC Ensembl
chr12:55143471..55147012hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383542
hg193542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496797
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056528
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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