A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4256918



Internal ID20102239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74887679..74926800hg38UCSC Ensembl
chr17:72883808..72922895hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3839122
hg1939088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15837357
Samples
Known GenesFADS6, OTOP2, USH1G
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)nsv4256918
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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