A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978990



Internal ID22753925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19387175..24442537hg38UCSC Ensembl
chr13:19961315..25016675hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg385055363
hg195055361
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv514n209
Supporting Variantsnssv17372604
Samples
Known GenesANKRD20A19P, BASP1P1, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, CRYL1, FGF9, GJA3, GJB2, GJB6, IFT88, IL17D, LATS2, LINC00327, LINC00367, 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)nsv5978990
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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