A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259272



Internal ID22063882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26540097..26540097hg38UCSC Ensembl
chr18:24120061..24120061hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849742
Samples
Known GenesKCTD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259272
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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