A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249847



Internal ID22054457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78195482..78195482hg38UCSC Ensembl
chr15:78487824..78487824hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848678
Samples
Known GenesACSBG1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249847
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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