A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844725



Internal ID22028368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24937876..24937876hg38UCSC Ensembl
chr13:25512014..25512014hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248809
Supporting Variants
Samples
Known GenesTPTE2P1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844725
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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