A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420444



Internal ID199548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162104470..162394594hg38UCSC Ensembl
chr1:162074260..162364384hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38290125
hg19290125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891450
Samples
Known GenesC1orf111, C1orf226, MIR4654, MIR556, NOS1AP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420444
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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