A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546997



Internal ID20920207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152709894..152710343hg38UCSC Ensembl
chr2:153566408..153566857hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18254626
Samples
Known GenesPRPF40A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546997
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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