A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969193



Internal ID22744128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19344229..24542503hg38UCSC Ensembl
chr13:19918369..25116641hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg385198275
hg195198273
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv514n209
Supporting Variantsnssv17378379
Samples
Known GenesANKRD20A19P, ANKRD26P3, BASP1P1, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, CRYL1, FGF9, GJA3, GJB2, GJB6, IFT88, IL17D, LATS2, LINC00327, LINC00367, LINC00421, LINC00424, LINC00539, LINC00540, MICU2, MIPEP, MIPEPP3, MIR2276, MIR4499, MPHOSPH8, MRP63, N6AMT2, PARP4, PSPC1, SACS, SACS-AS1, SAP18, SGCG, SKA3, SPATA13, SPATA13-AS1, TNFRSF19, TPTE2, XPO4, ZDHHC20, ZMYM2, ZMYM5
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969193
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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