A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400729



Internal ID21058282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55696701..55701600hg38UCSC Ensembl
chr5:54992529..54997428hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214058
Samples
Known GenesSLC38A9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400729
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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