A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847436



Internal ID22031079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27644706..27644706hg38UCSC Ensembl
chr2:27867573..27867573hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242298
Supporting Variants
Samples
Known GenesGPN1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847436
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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