A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546900



Internal ID20920111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220988201..223580063hg38UCSC Ensembl
chr2:221852921..224444781hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382591863
hg192591861
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18259385
Samples
Known GenesACSL3, CCDC140, EPHA4, FARSB, KCNE4, MOGAT1, PAX3, SGPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546900
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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