A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15924143



Internal ID19996083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128050589..128057956hg38UCSC Ensembl
chr7:127690641..127698008hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg387368
hg197368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4163586
Supporting Variants
Samples
Known GenesSND1
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)nssv15924143
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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