A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202980



Internal ID20770020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49508557..49511693hg38UCSC Ensembl
chr20:48125094..48128230hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg383137
hg193137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6545335
Supporting Variants
Samples
Known GenesPTGIS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202980
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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