A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406518



Internal ID185857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:36531765..36531816hg38UCSC Ensembl
chr3:36573257..36573308hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932565
Samples
Known GenesSTAC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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