A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17838927



Internal ID22022570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161347129..161347129hg38UCSC Ensembl
chr1:161316919..161316919hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245327
Supporting Variants
Samples
Known GenesSDHC
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17838927
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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