A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857316



Internal ID22040959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118989040..118989040hg38UCSC Ensembl
chr1:119531663..119531663hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256717
Supporting Variants
Samples
Known GenesTBX15
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857316
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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