A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849741



Internal ID22033384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26503179..26503179hg38UCSC Ensembl
chr18:24083143..24083143hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6259271
Supporting Variants
Samples
Known GenesKCTD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849741
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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