A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517134



Internal ID293564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2848286..2849525hg38UCSC Ensembl
chr18:2848284..2849523hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715886
Samples
Known GenesEMILIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517134
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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