A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974339



Internal ID22749274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44885587..46661473hg38UCSC Ensembl
chr4:44887604..46663490hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381775887
hg191775887
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421549
Samples
Known GenesGABRA2, GABRG1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974339
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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