A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435675



Internal ID214312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229418571..229419179hg38UCSC Ensembl
chr1:229554318..229554926hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898330
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435675
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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