A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6595020



Internal ID20968091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49148101..52144680hg38UCSC Ensembl
chr18:46674471..49671050hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382996580
hg192996580
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18246924
Samples
Known GenesACAA2, C18orf32, CCDC11, CXXC1, DYM, ELAC1, LIPG, LOC100287225, MAPK4, MBD1, ME2, MEX3C, MIR1539, MIR4320, MRO, MYO5B, RPL17, RPL17-C18orf32, SCARNA17, SKA1, SMAD4, SNORD58A, SNORD58B, SNORD58C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6595020
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