A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4325577



Internal ID19838604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:20333755..29497356hg38UCSC Ensembl
chr21:21706067..30869676hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg389163602
hg199163610
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091281
Samples
Known GenesADAMTS1, ADAMTS5, APP, ATP5J, BACH1, CCT8, CYYR1, D21S2088E, GABPA, JAM2, LINC00113, LINC00158, LINC00161, LINC00189, LINC00308, LINC00314, LINC00317, LINC00320, LINC00515, LOC339622, LTN1, MAP3K7CL, MIR155, MIR155HG, MIR4759, MIR5009, MRPL39, N6AMT1, NCAM2, RNU6-67P, RWDD2B, USP16
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)nsv4325577
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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