A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558551



Internal ID331610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40895286..71029944hg38UCSC Ensembl
chr6:40863025..71739647hg19UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg3830134659
hg1930876623
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984679
Samples
Known GenesAARS2, ABCC10, ADCY10P1, ANKRD66, APOBEC2, ATP6V0CP3, B3GAT2, BAG2, BAI3, BEND6, BMP5, BYSL, C6orf132, C6orf141, C6orf223, C6orf226, C6orf57, CAPN11, CCND3, CD2AP, CDC5L, CENPQ, CLIC5, CNPY3, COL19A1, COL21A1, COL9A1, CRIP3, CRISP1, CRISP2, CRISP3, CUL7, CUL9, CYP39A1, DEFB110, DEFB112, DEFB113, DEFB114, DEFB133, DLK2, DNPH1, DST, EFHC1, ELOVL5, ENPP4, ENPP5, EYS, FAM135A, FAM83B, FBXO9, FOXP4, FRS3, GCLC, GCM1, GFRAL, GLTSCR1L, GLYATL3, GNMT, GPR110, GPR111, GPR115, GPR116, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GSTA7P, GTPBP2, GUCA1A, GUCA1B, GUSBP4, HCRTR2, HMGCLL1, HSP90AB1, ICK, IL17A, IL17F, KHDRBS2, KIAA1586, KLC4, KLHDC3, KLHL31, LGSN, LMBRD1, LOC100132354, LOC441155, LOC730101, LRRC1, LRRC73, MAD2L1BP, MCM3, MDFI, MEA1, MED20, MEP1A, MIR133B, MIR206, MIR4641, MIR4642, MIR4647, MIR5685, MIR586, MIR6780B, MLIP, MLIP-IT1, MRPL14, MRPL2, MRPS10, MRPS18A, MTRNR2L9, MUT, NCR2, NFKBIE, NFYA, OARD1, OPN5, PAQR8, PEX6, PGC, PGK2, PHF3, PKHD1, PLA2G7, POLH, POLR1C, PPP2R5D, PRICKLE4, PRIM2, PRPH2, PTCHD4, PTCRA, PTK7, PTP4A1, RAB23, RCAN2, RHAG, RNU6-71P, RPL7L1, RPS16P5, RRP36, RSPH9, RUNX2, SLC22A7, SLC25A27, SLC25A51P1, SLC29A1, SLC35B2, SMAP1, SPATS1, SRF, SUPT3H, TAF8, TBCC, TCTE1, TDRD6, TFAP2B, TFAP2D, TFEB, TINAG, TJAP1, TMEM14A, TMEM151B, TMEM63B, TNFRSF21, TOMM6, TRAM2, TRAM2-AS1, TREM1, TREM2, TREML1, TREML2, TREML3P, TREML4, TREML5P, TRERF1, TSPO2, TTBK1, UBR2, UNC5CL, USP49, VEGFA, XPO5, YIPF3, ZNF318, ZNF451
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558551
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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