A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906781



Internal ID5305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101154901..101353968hg38UCSC Ensembl
chr1:101620457..101819524hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38199068
hg19199068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415771
Supporting Variants
Samples
Known GenesLOC101928370, RNU6-31P, S1PR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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