A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5667399



Internal ID21615704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108527822..109733036hg38UCSC Ensembl
chr2:109144278..110490613hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg381205215
hg191346336
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107497
SamplesHG03125
Known GenesCCDC138, EDAR, LIMS1, MIR4265, MIR4266, RANBP2, SEPT10, SH3RF3, SH3RF3-AS1, SOWAHC
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5667399
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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