A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847478



Internal ID22031121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55593133..55593133hg38UCSC Ensembl
chr18:53260364..53260364hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242483
Supporting Variants
Samples
Known GenesTCF4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847478
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer