A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6555384



Internal ID20928474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219848358..220334963hg38UCSC Ensembl
chr1:220021700..220508305hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38486606
hg19486606
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18248670
Samples
Known GenesAURKAPS1, BPNT1, EPRS, IARS2, MIR194-1, MIR215, MIR664, RAB3GAP2, RNU5F-1, SLC30A10, SNORA36B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6555384
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