A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966034



Internal ID44679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55682846..55737976hg38UCSC Ensembl
chr5:54978674..55033804hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3855131
hg1955131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456312
Supporting Variants
Samples
Known GenesSLC38A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966034
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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