A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4339493



Internal ID19840419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91312163..92104320hg38UCSC Ensembl
chr7:90941478..91733634hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38792158
hg19792157
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791144
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4339493
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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