A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253028



Internal ID22057638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46213375..46213375hg38UCSC Ensembl
chr1:46679047..46679047hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852300
Samples
Known GenesLURAP1, POMGNT1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253028
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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