A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4323776



Internal ID19838486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12783146..17180582hg38UCSC Ensembl
chr17:12686463..17083896hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384397437
hg194397434
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091078
Samples
Known GenesADORA2B, ARHGAP44, CCDC144A, CDRT1, CDRT15, CDRT15P1, CDRT15P2, CDRT4, CDRT7, CDRT8, CENPV, COX10, COX10-AS1, ELAC2, FAM106CP, FAM211A, FAM211A-AS1, HS3ST3A1, HS3ST3B1, KRT16P2, LOC100128006, MEIS3P1, MGC12916, MIR1288, MIR4731, MPRIP, NCOR1, PIGL, PMP22, SNORD49A, SNORD49B, SNORD65, TBC1D26, TEKT3, TNFRSF13B, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, USP32P1, ZNF286A, ZNF287, ZNF624, ZSWIM7
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4323776
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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