A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452510



Internal ID230662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209542263..209553559hg38UCSC Ensembl
chr1:209715608..209726904hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3811297
hg1911297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896967
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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