A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv181n223



Internal ID22803149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46215208..46216261hg38UCSC Ensembl
chr1:46680880..46681933hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6554608, nsv6554093
Samples
Known GenesLURAP1, POMGNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv181n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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