A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258670



Internal ID22063280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31798381..31798381hg38UCSC Ensembl
chr14:32267587..32267587hg19UCSC Ensembl
Cytoband14q12
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 Variantsnssv17847062
Samples
Known GenesNUBPL
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258670
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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