A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435061



Internal ID213717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186273745..186273898hg38UCSC Ensembl
chr1:186242877..186243030hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893186
Samples
Known GenesMIR548F1, RNU6-72P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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