A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199929



Internal ID20766969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211470479..211478331hg38UCSC Ensembl
chr1:211643821..211651673hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg387853
hg197853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334197
Supporting Variants
Samples
Known GenesRD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199929
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00054


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