A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704541



Internal ID128207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10884128..10884128hg38UCSC Ensembl
chr16:10977985..10977985hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545062
Supporting Variants
Samples
Known GenesCIITA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.135264


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