A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852860



Internal ID22036503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74490076..74490076hg38UCSC Ensembl
chr1:74955760..74955760hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243621
Supporting Variants
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852860
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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