A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378379



Internal ID22436249
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 StatusS
Merged Variantsnsv5969193
Supporting Variants
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)nssv17378379
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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