A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839672



Internal ID22023315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63066390..63066390hg38UCSC Ensembl
chr8:63978949..63978949hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246061
Supporting Variants
Samples
Known GenesTTPA
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839672
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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