A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978200



Internal ID22753135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217303879..217304913hg38UCSC Ensembl
chr2:218168602..218169636hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404665
Samples
Known GenesDIRC3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978200
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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