A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549173



Internal ID20922341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220026707..220027190hg38UCSC Ensembl
chr1:220200049..220200532hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv535n223
Supporting Variantsnssv18248676
Samples
Known GenesEPRS, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549173
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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