A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4509904



Internal ID20240000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:624870..635220hg38UCSC Ensembl
chr1:560250..570600hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3810351
hg1910351
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15781425, nssv15783358, nssv15783360, nssv15781437, nssv15781432, nssv15781424, nssv15781436, nssv15783359, nssv15781433, nssv15781427, nssv15781431, nssv15781430, nssv15781428, nssv15783355, nssv15783357, nssv15781434, nssv15783356, nssv15781426, nssv15781435, nssv15781429, nssv15781438
Samples
Known GenesMIR6723
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)nsv4509904
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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