A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035915



Internal ID20165957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:23319735..23361453hg38UCSC Ensembl
chr15:23564876..23606600hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3841719
hg1941725
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15779147, nssv15779148, nssv15779152, nssv15779150, nssv15779151, nssv15779153, nssv15779149
Samples
Known GenesGOLGA8S, LOC440243
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 ID32461652
Accession Number(s)nsv4035915
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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