A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846854



Internal ID22030497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63287366..63287366hg38UCSC Ensembl
chr15:63579565..63579565hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6249751
Supporting Variants
Samples
Known GenesAPH1B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846854
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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