A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428800



Internal ID207658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177198254..177213563hg38UCSC Ensembl
chr1:177167390..177182699hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3815310
hg1915310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892295
Samples
Known GenesBRINP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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