A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848624



Internal ID22032267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10150790..10150790hg38UCSC Ensembl
chr2:10290917..10290917hg19UCSC 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 Variantsnsv6242086
Supporting Variants
Samples
Known GenesC2orf48
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848624
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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