A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15921708



Internal ID19646962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72527014..72849920hg38UCSC Ensembl
chr7:71991999..72320500hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38322907
hg19328502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4524016
Supporting Variants
Samples
Known GenesMIR4650-1, MIR4650-2, SBDSP1, TYW1B
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)nssv15921708
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000277


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