A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690457



Internal ID114123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103295144..103308633hg38UCSC Ensembl
chr12:103688922..103702411hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3813490
hg1913490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494238
Supporting Variants
Samples
Known GenesC12orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690457
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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