A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849707



Internal ID22033350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21547368..21547368hg38UCSC Ensembl
chr18:19127329..19127329hg19UCSC 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 Variantsnsv6259237
Supporting Variants
Samples
Known GenesESCO1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849707
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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