A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428629



Internal ID207494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170092587..170111000hg38UCSC Ensembl
chr1:170061728..170080141hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3818414
hg1918414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891604
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428629
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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