A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977899



Internal ID22752835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227539323..230369909hg38UCSC Ensembl
chr2:228404039..231234624hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382830587
hg192830586
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400691
Samples
Known GenesAGFG1, C2orf83, CCL20, DAW1, DNER, FBXO36, PID1, SLC16A14, SLC19A3, SP110, SP140, SP140L, SPHKAP, TRIP12
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977899
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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