A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498467



Internal ID275458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51079622..51080003hg38UCSC Ensembl
chr12:51473405..51473786hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058556
Samples
Known GenesCSRNP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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