A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906169



Internal ID4910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4593533..4593584hg38UCSC Ensembl
chr1:4653593..4653644hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405392
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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