A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493968



Internal ID271129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100542824..100550712hg38UCSC Ensembl
chr12:100936602..100944490hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387889
hg197889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690321
Samples
Known GenesNR1H4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493968
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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