A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4321328



Internal ID19838345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67667665..75720239hg38UCSC Ensembl
chr16:67701568..75754137hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg388052575
hg198052570
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091068
Samples
Known GenesAARS, ADAT1, AP1G1, ATXN1L, BCAR1, C16orf47, C16orf86, CALB2, CDH1, CDH3, CENPT, CFDP1, CHST4, CHST5, CHST6, CHTF8, CIRH1A, CLEC18A, CLEC18B, CLEC18C, CMTR2, COG4, COG8, CTRB1, CTRB2, CTRL, CYB5B, DDX19A, DDX19B, DDX28, DHODH, DHX38, DPEP2, DPEP3, DUS2, EDC4, ESRP2, EXOSC6, FA2H, FUK, GABARAPL2, GFOD2, GLG1, HAS3, HCCAT5, HP, HPR, HYDIN, IL34, IST1, KARS, LCAT, LDHD, LOC100131303, LOC100132529, LOC100506060, LOC100506083, LOC100506172, LOC101928035, LOC283922, MARVELD3, MIR140, MIR1538, MIR1972-1, MIR1972-2, MIR6773, MLKL, MTSS1L, NFAT5, NFATC3, NIP7, NOB1, NQO1, NRN1L, NUTF2, PDF, PDPR, PDXDC2P, PHLPP2, PKD1L3, PLA2G15, PMFBP1, PRMT7, PSKH1, PSMB10, PSMD7, RANBP10, RFWD3, SF3B3, SLC12A4, SLC7A6, SLC7A6OS, SMPD3, SNORA70D, SNORD111, SNORD111B, SNORD71, SNTB2, ST3GAL2, TANGO6, TAT, TERF2, TERF2IP, THAP11, TMED6, TMEM170A, TMEM231, TSNAXIP1, TXNL4B, VAC14, VAC14-AS1, VPS4A, WDR59, WWP2, ZFHX3, ZFP1, ZFP90, ZNF19, ZNF23, ZNF821, ZNRF1
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)nsv4321328
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer