A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034426



Internal ID20164905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36357257..36388230hg38UCSC Ensembl
chr17:34725848..34756800hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3830974
hg1930953
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15780091, nssv15780099, nssv15780097, nssv15780098, nssv15780093, nssv15780101, nssv15780092, nssv15780094, nssv15780096, nssv15780095, nssv15780102, nssv15780100
Samples
Known GenesTBC1D3H
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)nsv4034426
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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