A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17621953



Internal ID21814000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45647854..45647854hg38UCSC Ensembl
chr18:43227819..43227819hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6104037
Supporting Variants
Samples
Known GenesSLC14A2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17621953
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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