A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715889



Internal ID139555
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 StatusS
Merged Variantsnsv5549505
Supporting Variants
Samples
Known GenesEMILIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715889
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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