A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420038



Internal ID199154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:72408352..72408403hg38UCSC Ensembl
chr12:72802132..72802183hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689027
Samples
Known GenesTRHDE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420038
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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