A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18250364



Internal ID20817404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231392060..231394362hg38UCSC Ensembl
chr1:231527806..231530108hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382303
hg192303
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6555170
Supporting Variants
Samples
Known GenesEGLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18250364
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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