A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259167



Internal ID22063777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4426318..4426318hg38UCSC Ensembl
chr18:4426318..4426318hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849268
Samples
Known GenesDLGAP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259167
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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