A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977639



Internal ID22752574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40827499..41120720hg38UCSC Ensembl
chr19:41333404..41626625hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38293222
hg19293222
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1040n209
Supporting Variantsnssv17399811
Samples
Known GenesCYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2B7P, CYP2F1, CYP2G1P
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977639
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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