A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853227



Internal ID22036870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54855934..54855934hg38UCSC Ensembl
chr1:55321607..55321607hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253450
Supporting Variants
Samples
Known GenesDHCR24
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853227
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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