A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201964



Internal ID20769005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166975901..166992500hg38UCSC Ensembl
chr1:166945138..166961737hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3816600
hg1916600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334263
Supporting Variants
Samples
Known GenesMAEL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201964
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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