A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498422



Internal ID275412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57290155..57290235hg38UCSC Ensembl
chr12:57683938..57684018hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057826
Samples
Known GenesR3HDM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498422
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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