A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18233356



Internal ID20800396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55524684..56392758hg38UCSC Ensembl
chr12:55918468..56786542hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38868075
hg19868075
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6588914
Supporting Variants
Samples
Known GenesANKRD52, APOF, BLOC1S1, BLOC1S1-RDH5, CD63, CDK2, CNPY2, COQ10A, CS, DGKA, DNAJC14, ERBB3, ESYT1, GDF11, IKZF4, IL23A, ITGA7, METTL7B, MMP19, MYL6, MYL6B, NABP2, OR10P1, OR2AP1, OR6C4, ORMDL2, PA2G4, PAN2, PMEL, RAB5B, RDH5, RNF41, RPL41, RPS26, SARNP, SLC39A5, SMARCC2, STAT2, SUOX, TMEM198B, WIBG, ZC3H10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18233356
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00013


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