A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847594



Internal ID22031237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15266591..15266591hg38UCSC Ensembl
chr2:15406715..15406715hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242181
Supporting Variants
Samples
Known GenesNBAS
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847594
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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