A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791243



Internal ID19863316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138866953..138869087hg38UCSC Ensembl
chr7:138551699..138553833hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382135
hg192135
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4563851
Supporting Variants
Samples
Known GenesKIAA1549
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 ID32461652
Accession Number(s)nssv15791243
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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