A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513871



Internal ID290382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131003999..131384568hg38UCSC Ensembl
chr12:131488544..131869113hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38380570
hg19380570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685489
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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