A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554821



Internal ID327994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:86167722..86167773hg38UCSC Ensembl
chr3:86216872..86216923hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16935135
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554821
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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