A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413300



Internal ID192593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147880786..147880837hg38UCSC Ensembl
chr5:147260349..147260400hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976316
Samples
Known GenesSCGB3A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413300
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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