A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549505



Internal ID323158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2867975..2867985hg38UCSC Ensembl
chr18:2867973..2867983hg19UCSC 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 Variantsnssv17715889
Samples
Known GenesEMILIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549505
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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