A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250215



Internal ID22054825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29249460..29249460hg38UCSC Ensembl
chr16:29260781..29260781hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848801
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250215
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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