A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4269043



Internal ID20110728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81949112..82836454hg38UCSC Ensembl
chr17:79906988..80794330hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38887343
hg19887343
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958664
Samples
Known GenesASPSCR1, C17orf62, CCDC57, CD7, CSNK1D, DCXR, DUS1L, FASN, FN3K, FN3KRP, FOXK2, GPS1, HEXDC, LRRC45, MIR6787, NARF, NOTUM, OGFOD3, RAB40B, RAC3, RFNG, SECTM1, SLC16A3, STRA13, TBCD, TEX19, UTS2R, WDR45B, ZNF750
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)nsv4269043
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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