A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239558



Internal ID22044168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108498153..108498153hg38UCSC Ensembl
chr7:108138597..108138597hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838759
Samples
Known GenesPNPLA8
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239558
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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