A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4208989



Internal ID20415695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121962383..124521347hg38UCSC Ensembl
chr10:123721898..126209916hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg382558965
hg192488019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15800105
Samples
Known GenesACADSB, ARMS2, BTBD16, BUB3, C10orf120, C10orf88, CHST15, CPXM2, CUZD1, DMBT1, FAM24A, FAM24B, FAM24B-CUZD1, FLJ46361, GPR26, HMX2, HMX3, HTRA1, IKZF5, LHPP, LOC399815, MIR3941, NKX1-2, NSMCE4A, OAT, PLEKHA1, PSTK, TACC2
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 ID32461652
Accession Number(s)nsv4208989
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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