A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6553108



Internal ID20926223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99750070..99751346hg38UCSC Ensembl
chr3:99468914..99470190hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg381277
hg191277
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18262778
Samples
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6553108
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer