A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15923124



Internal ID19648378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124748258..124748353hg38UCSC Ensembl
chr7:124388312..124388407hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4162368
Supporting Variants
Samples
Known GenesGPR37
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)nssv15923124
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000691


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