A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547045



Internal ID320932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:72422933..72422933hg38UCSC Ensembl
chr10:74182691..74182691hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17037527
Samples
Known GenesMICU1, MIR1256
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547045
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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