A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554694



Internal ID327872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211779173..211779224hg38UCSC Ensembl
chr1:211952515..211952566hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895081
Samples
Known GenesLPGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554694
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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