A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202122



Internal ID20769162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:97393996..97398674hg38UCSC Ensembl
chr1:97859552..97864230hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg384679
hg194679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323724
Supporting Variants
Samples
Known GenesDPYD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202122
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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