A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189415



Internal ID20756455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31938701..31968100hg38UCSC Ensembl
chr13:32512838..32542237hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3829400
hg1929400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477980
Supporting Variants
Samples
Known GenesEEF1DP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189415
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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