A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056926



Internal ID105790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753803..53753916hg38UCSC Ensembl
chr12:54147587..54147700hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511405
Supporting Variants
Samples
Known GenesCISTR-ACT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056926
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.176397


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