A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790618



Internal ID19515995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126437343..127420238hg38UCSC Ensembl
chr5:125773035..126755930hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38982896
hg19982896
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4333134
Supporting Variants
Samples
Known GenesALDH7A1, C5orf48, C5orf63, GRAMD3, LMNB1, MARCH3, MEGF10, PHAX
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 ID12345678
Accession Number(s)nssv15790618
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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