A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968615



Internal ID22743550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110764018..110765669hg38UCSC Ensembl
chr2:111521595..111523246hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381652
hg191652
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397990
Samples
Known GenesACOXL
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968615
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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