A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427703



Internal ID206600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153695650..153700930hg38UCSC Ensembl
chr1:153668126..153673406hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg385281
hg195281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890619
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427703
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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