A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561912



Internal ID334879
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 StatusM
Merged Variants
Supporting Variantsnssv16933320
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)nsv5561912
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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