A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413186



Internal ID192481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12167249..12167300hg38UCSC Ensembl
chr10:12209248..12209299hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029230
Samples
Known GenesSEC61A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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