A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546353



Internal ID20919571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227539362..230369917hg38UCSC Ensembl
chr2:228404078..231234632hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382830556
hg192830555
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4298n223
Supporting Variantsnssv18257211
Samples
Known GenesAGFG1, C2orf83, CCL20, DAW1, DNER, FBXO36, PID1, SLC16A14, SLC19A3, SP110, SP140, SP140L, SPHKAP, TRIP12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546353
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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