A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6411163



Internal ID21068716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129410146..129713792hg38UCSC Ensembl
chr5:128745839..129049485hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38303647
hg19303647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215420
Samples
Known GenesADAMTS19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6411163
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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