A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249864



Internal ID22054474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:80985547..80985547hg38UCSC Ensembl
chr15:81277888..81277888hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848697
Samples
Known GenesMESDC2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249864
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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