A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv576n223



Internal ID22803544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245047364..245049151hg38UCSC Ensembl
chr1:245210666..245212453hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381788
hg191788
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6542036, nsv6537774
Samples
Known GenesEFCAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv576n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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