A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857946



Internal ID22041589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122779420..122779420hg38UCSC Ensembl
chr5:122115115..122115115hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244775
Supporting Variants
Samples
Known GenesSNX2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857946
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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