A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967503



Internal ID19692757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36985851..38104302hg38UCSC Ensembl
chr22:37381892..38500309hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381118452
hg191118418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4278013
Supporting Variants
Samples
Known GenesANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CDC42EP1, CYTH4, EIF3L, ELFN2, GALR3, GCAT, GGA1, H1F0, IL2RB, KCTD17, LGALS1, LGALS2, MFNG, MICALL1, MIR4534, MIR658, MIR659, MIR6820, MPST, NOL12, PDXP, PICK1, POLR2F, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, TEX33, TMPRSS6, TRIOBP, TST
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)nssv15967503
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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