A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415771



Internal ID195020
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 StatusM
Merged Variants
Supporting Variantsnssv16906781
Samples
Known GenesLOC101928370, RNU6-31P, S1PR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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