A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972780



Internal ID22747715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10984398..10992044hg38UCSC Ensembl
chr12:11136997..11144643hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg387647
hg197647
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351150
Samples
Known GenesPRH1-PRR4, TAS2R50
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972780
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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