A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202355



Internal ID20769395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231418601..231434600hg38UCSC Ensembl
chr1:231554347..231570346hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3816000
hg1916000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333267
Supporting Variants
Samples
Known GenesEGLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202355
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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