A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202744



Internal ID20769784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229100820..229107620hg38UCSC Ensembl
chr1:229236567..229243367hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg386801
hg196801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320095
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202744
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00662


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