A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551821



Internal ID325244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52696932..52696981hg38UCSC Ensembl
chr3:52730948..52730997hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932776
Samples
Known GenesGLT8D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551821
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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