A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17842235



Internal ID22025878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205255715..205255715hg38UCSC Ensembl
chr1:205224843..205224843hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258064
Supporting Variants
Samples
Known GenesTMCC2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17842235
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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