A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4040549



Internal ID19822503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11490..40940hg38UCSC Ensembl
chr12:64800..94250hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3829451
hg1929451
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15778490, nssv15778495, nssv15778493, nssv15778492, nssv15778496, nssv15778487, nssv15778486, nssv15778494, nssv15778488, nssv15778491, nssv15778489
Samples
Known GenesLOC100288778
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)nsv4040549
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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