A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848636



Internal ID22032279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11176164..11176164hg38UCSC Ensembl
chr2:11316290..11316290hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242141
Supporting Variants
Samples
Known GenesPQLC3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848636
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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