A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431016



Internal ID209805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17447425..17455389hg38UCSC Ensembl
chr1:17773921..17781885hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg387965
hg197965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900009
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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