A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4132780



Internal ID20013908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31587386..31623886hg38UCSC Ensembl
chr7:31627000..31663500hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3836501
hg1936501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15920170
Samples
Known GenesCCDC129
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)nsv4132780
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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