A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203925



Internal ID20770965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34072901..34075400hg38UCSC Ensembl
chr21:35445201..35447700hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6537352
Supporting Variants
Samples
Known GenesMRPS6, SLC5A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203925
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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