A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412830



Internal ID192130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42518750..42518801hg38UCSC Ensembl
chr3:42560242..42560293hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931909
Samples
Known GenesVIPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412830
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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