A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429699



Internal ID208538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:146032315..146033252hg38UCSC Ensembl
chr1:145401748..145402686hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38938
hg19939
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889078
Samples
Known GenesLOC100288142, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429699
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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