A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830218



Internal ID22605153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46584338..46587560hg38UCSC Ensembl
chr1:47050010..47053232hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg383223
hg193223
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42n209
Supporting Variantsnssv17451054
Samples
Known GenesMKNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830218
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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