A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394356



Internal ID173788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154373141..154373192hg38UCSC Ensembl
chr5:153752701..153752752hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975228
Samples
Known GenesGALNT10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394356
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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