A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239868



Internal ID22044478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144827758..144827758hg38UCSC Ensembl
chr7:144524851..144524851hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838805
Samples
Known GenesTPK1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239868
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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