A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933320



Internal ID22941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46623292..58677536hg38UCSC Ensembl
chr3:46664782..58663263hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3812054245
hg1911998482
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561912
Supporting Variants
Samples
Known GenesABHD14A, ABHD14A-ACY1, ABHD14B, ABHD6, ACOX2, ACTR8, ACY1, ALAS1, ALS2CL, AMIGO3, AMT, APEH, APPL1, ARF4, ARHGEF3, ARHGEF3-AS1, ARIH2, ARIH2OS, ASB14, ATRIP, BAP1, BSN, BSN-AS2, C3orf18, C3orf62, C3orf84, CACNA1D, CACNA2D2, CACNA2D3, CACNA2D3-AS1, CAMKV, CAMP, CCDC12, CCDC36, CCDC51, CCDC66, CCDC71, CDC25A, CDHR4, CELSR3, CHDH, CISH, COL7A1, CSPG5, CYB561D2, DAG1, DALRD3, DCP1A, DENND6A, DHX30, DNAH1, DNAH12, DNASE1L3, DOCK3, DUSP7, ELP6, ERC2, ERC2-IT1, ESRG, FAM107A, FAM208A, FAM212A, FAM3D, FBXW12, FLNB, GLT8D1, GLYCTK, GMPPB, GNAI2, GNAT1, GNL3, GPR62, GPX1, GRM2, HEMK1, HESX1, HYAL1, HYAL2, HYAL3, IFRD2, IL17RB, IL17RD, IMPDH2, IP6K1, IP6K2, IQCF1, IQCF2, IQCF3, IQCF4, IQCF5, IQCF6, ITIH1, ITIH3, ITIH4, KCTD6, KIF9, KIF9-AS1, KLHDC8B, KLHL18, LAMB2, LAMB2P1, LINC00696, LOC100132146, LRTM1, LSMEM2, MANF, MAP4, MAPKAPK3, MIR1226, MIR135A1, MIR191, MIR3938, MIR425, MIR4271, MIR4443, MIR4787, MIR4793, MIR5193, MIR5787, MIR6823, MIR6824, MIR6872, MIR6890, MIR711, MIR8064, MIRLET7G, MON1A, MST1, MST1R, MUSTN1, MYL3, NAT6, NBEAL2, NCKIPSD, NDUFAF3, NEK4, NICN1, NISCH, NME6, NPRL2, NRADDP, NT5DC2, P4HTM, PARP3, PBRM1, PCBP4, PDE12, PDHB, PFKFB4, PHF7, PLXNB1, POC1A, PPM1M, PRKAR2A, PRKCD, PRSS42, PRSS45, PRSS46, PRSS50, PTH1R, PTPN23, PXK, QARS, QRICH1, RAD54L2, RASSF1, RBM15B, RBM5, RBM5-AS1, RBM6, RFT1, RHOA, RNF123, RPL29, RPP14, RRP9, SCAP, SELK, SEMA3B, SEMA3F, SEMA3G, SETD2, SFMBT1, SHISA5, SLC25A20, SLC26A6, SLC38A3, SLMAP, SMARCC1, SMIM4, SNORD19, SNORD19B, SNORD69, SPATA12, SPCS1, SPINK8, STAB1, TCTA, TEX264, TKT, TLR9, TMA7, TMEM110, TMEM110-MUSTN1, TMEM115, TMEM89, TMIE, TNNC1, TRAIP, TREX1, TUSC2, TWF2, UBA7, UCN2, UQCRC1, USP19, USP4, VPRBP, WDR6, WDR82, WNT5A, ZMYND10, ZNF589
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933320
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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