A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980034



Internal ID22754969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:83154897..85212825hg38UCSC Ensembl
chr3:83204048..85261975hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg382057929
hg192057928
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418608
Samples
Known GenesCADM2, LINC00971
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980034
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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