A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202702



Internal ID20769742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225979127..225984060hg38UCSC Ensembl
chr1:226166828..226171761hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384934
hg194934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319293
Supporting Variants
Samples
Known GenesSDE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202702
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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