A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4562404



Internal ID19945606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247051887..247845194hg38UCSC Ensembl
chr1:247215189..248008496hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38793308
hg19793308
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789138
Samples
Known GenesC1orf229, GCSAML, GCSAML-AS1, MIR3916, NLRP3, OR11L1, OR13G1, OR14A16, OR1C1, OR2B11, OR2C3, OR2G2, OR2G3, OR2W5, OR6F1, VN1R5, ZNF124, ZNF496, ZNF669, ZNF670, ZNF670-ZNF695
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4562404
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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