A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4332950



Internal ID20185866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70643303..70710568hg38UCSC Ensembl
chr8:71555538..71622803hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3867266
hg1967266
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791401
Samples
Known GenesLACTB2, LOC286190, XKR9
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)nsv4332950
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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