A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246079



Internal ID22050689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65787059..65787059hg38UCSC Ensembl
chr8:66699294..66699294hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839689
Samples
Known GenesPDE7A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246079
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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