A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508478



Internal ID285167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50375232..50390334hg38UCSC Ensembl
chr12:50769015..50784117hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3815103
hg1915103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056483
Samples
Known GenesFAM186A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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