A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406741



Internal ID186079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215646380..215646380hg38UCSC Ensembl
chr1:215819722..215819722hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896684
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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