A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430748



Internal ID209544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46556854..46557144hg38UCSC Ensembl
chr1:47022526..47022816hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901876
Samples
Known GenesMKNK1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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