A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456312



Internal ID234382
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 StatusM
Merged Variants
Supporting Variantsnssv16966034
Samples
Known GenesSLC38A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456312
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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