A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503130



Internal ID279972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113122000..113128128hg38UCSC Ensembl
chr12:113559805..113565933hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386129
hg196129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690710
Samples
Known GenesRASAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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