A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400465



Internal ID179846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240826820..240826871hg38UCSC Ensembl
chr1:240990120..240990171hg19UCSC Ensembl
Cytoband1q43
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 Variantsnssv17683849
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400465
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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