A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199164



Internal ID20766204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:189024226..189969358hg38UCSC Ensembl
chr1:188993357..189938488hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38945133
hg19945132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328891
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199164
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00016


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