A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249729



Internal ID22054339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:61185913..61185913hg38UCSC Ensembl
chr15:61478112..61478112hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846832
Samples
Known GenesRORA
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249729
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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