A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250809



Internal ID22055419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44070546..44070546hg38UCSC Ensembl
chr17:42147914..42147914hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848493
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250809
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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