A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414227



Internal ID193513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145478587..145497000hg38UCSC Ensembl
chr1:145982245..146000636hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3818414
hg1918392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890059
Samples
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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