A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4164420



Internal ID20383551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:156971366..156973522hg38UCSC Ensembl
chr7:156764060..156766216hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg382157
hg192157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15926092
Samples
Known GenesNOM1
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)nsv4164420
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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