A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973553



Internal ID22748488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50297227..50297227hg38UCSC Ensembl
chr18:47823597..47823597hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386917
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973553
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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