A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18254493



Internal ID20821533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144219171..144219750hg38UCSC Ensembl
chr2:144976738..144977317hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6543238
Supporting Variants
Samples
Known GenesGTDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18254493
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00055


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