A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413381



Internal ID192672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18160222..18160273hg38UCSC Ensembl
chr1:18486716..18486767hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899255
Samples
Known GenesIGSF21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413381
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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