A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4523924



Internal ID19907354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91312163..92103623hg38UCSC Ensembl
chr7:90941478..91732937hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38791461
hg19791460
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981382
Samples
Known GenesAKAP9, MTERF
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)nsv4523924
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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