A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250830



Internal ID22055440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48044427..48044427hg38UCSC Ensembl
chr17:46121789..46121789hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848516
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250830
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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