A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548306



Internal ID322073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2867963..2867969hg38UCSC Ensembl
chr18:2867961..2867967hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715888
Samples
Known GenesEMILIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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