A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394058



Internal ID173493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:21768394..21768445hg38UCSC Ensembl
chr10:22057323..22057374hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17033684
Samples
Known GenesDNAJC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394058
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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