A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395106



Internal ID174532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147258153..147258153hg38UCSC Ensembl
chr5:146637716..146637716hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976284
Samples
Known GenesSTK32A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395106
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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