A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970565



Internal ID47704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91378143..91378194hg38UCSC Ensembl
chr5:90673960..90674011hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407821
Supporting Variants
Samples
Known GenesARRDC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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