A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971904



Internal ID48624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109662225..109662276hg38UCSC Ensembl
chr5:108997926..108997977hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563370
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971904
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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