A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336704



Internal ID19839852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8125207..23815096hg38UCSC Ensembl
chr20:8105854..23795733hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3815689890
hg1915689880
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789206
Samples
Known GenesANKEF1, BANF2, BFSP1, BTBD3, C20orf26, C20orf78, CD93, CRNKL1, CSRP2BP, CST1, CST11, CST13P, CST3, CST4, CST8, CST9, CST9L, CSTL1, DSTN, DTD1, DZANK1, ESF1, FLRT3, FOXA2, GZF1, INSM1, ISM1, ISM1-AS1, JAG1, KIF16B, LAMP5, LINC00261, LINC00493, LINC00652, LINC00656, LINC00851, LOC100130264, LOC100270679, LOC100270804, LOC284788, LOC339593, MACROD2, MACROD2-AS1, MACROD2-IT1, MGME1, MIR3192, MIR6870, MKKS, NAA20, NAPB, NDUFAF5, NKX2-2, NKX2-4, NXT1, OTOR, OVOL2, PAK7, PAX1, PCSK2, PET117, PLCB1, PLCB4, PLK1S1, POLR3F, RALGAPA2, RBBP9, RIN2, RRBP1, SCP2D1, SEC23B, SEL1L2, SLC24A3, SLX4IP, SNAP25, SNAP25-AS1, SNORD17, SNRPB2, SNX5, SPTLC3, SSTR4, TASP1, THBD, XRN2, ZNF133
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)nsv4336704
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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