A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414140



Internal ID193425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149122587..149141293hg38UCSC Ensembl
chr1:144555679..144574707hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3818707
hg1919029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890526
Samples
Known GenesLOC100288142
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414140
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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