A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4337820



Internal ID19840080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87927023..87971505hg38UCSC Ensembl
chr7:87556338..87600820hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3844483
hg1944483
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791142
Samples
Known GenesADAM22
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4337820
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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