A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203808



Internal ID20770848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17815501..17824700hg38UCSC Ensembl
chr21:19187818..19197017hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg389200
hg199200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6538178
Supporting Variants
Samples
Known GenesC21orf91
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203808
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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