A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214081



Internal ID20781121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57016556..57022174hg38UCSC Ensembl
chr5:56312383..56318001hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385619
hg195619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406941
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214081
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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