A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847604



Internal ID22031247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15278080..15278080hg38UCSC Ensembl
chr2:15418204..15418204hg19UCSC 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 Variantsnsv6242182
Supporting Variants
Samples
Known GenesNBAS
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847604
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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