A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200783



Internal ID20767823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145147901..145149300hg38UCSC Ensembl
chr1:149692021..149693422hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381400
hg191402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325065
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200783
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00249


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