A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857974



Internal ID22041617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125372849..125372849hg38UCSC Ensembl
chr5:124708542..124708542hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244803
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857974
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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