A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246709



Internal ID22051319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135763662..135763662hg38UCSC Ensembl
chr8:136775905..136775905hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840277
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246709
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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