A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430962



Internal ID209755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108865082..108866390hg38UCSC Ensembl
chr1:109407704..109409012hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908806
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430962
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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