A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438740



Internal ID217297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453222..229453407hg38UCSC Ensembl
chr1:229588969..229589154hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896393
Samples
Known GenesNUP133
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438740
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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