A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971119



Internal ID22746054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40252807..40252911hg38UCSC Ensembl
chr2:40479947..40480051hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397057
Samples
Known GenesSLC8A1, SLC8A1-AS1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971119
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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