A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054911



Internal ID104442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2884213..2884681hg38UCSC Ensembl
chr12:2993379..2993847hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499375
Supporting Variants
Samples
Known GenesRHNO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054911
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003123


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