A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250946



Internal ID22055556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63803166..63803166hg38UCSC Ensembl
chr17:61880526..61880526hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848926
Samples
Known GenesDDX42
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250946
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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