A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897469



Internal ID172465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227823069..227826739hg38UCSC Ensembl
chr1:228010770..228014440hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554804
Supporting Variants
Samples
Known GenesPRSS38
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897469
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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