A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250038



Internal ID22054648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3465756..3465756hg38UCSC Ensembl
chr16:3515756..3515756hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846734
Samples
Known GenesNAA60
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250038
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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