A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205157



Internal ID20772197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84483347..84484766hg38UCSC Ensembl
chr1:84949030..84950449hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381420
hg191420
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326244
Supporting Variants
Samples
Known GenesRPF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205157
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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