A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378917



Internal ID22436787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6651630..6660441hg38UCSC Ensembl
chr18:6651629..6660440hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg388812
hg198812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940751
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378917
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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