A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395233



Internal ID174657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8338631..8338682hg38UCSC Ensembl
chr5:8338744..8338795hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963648
Samples
Known GenesLOC729506
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395233
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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