A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246707



Internal ID22051317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135557847..135557847hg38UCSC Ensembl
chr8:136570090..136570090hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840275
Samples
Known GenesKHDRBS3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246707
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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