A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562478



Internal ID335432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45310830..84506186hg38UCSC Ensembl
chrX:45170075..83761194hg19UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3839195357
hg1938591120
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736705
Samples
Known GenesABCB7, ACRC, AKAP4, ALAS2, AMER1, APEX2, AR, ARAF, ARHGEF9, ARR3, ASB12, ATP7A, ATRX, AWAT1, AWAT2, BCYRN1, BMP15, BRWD3, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CDX4, CENPVP1, CENPVP2, CFP, CHIC1, CHST7, CITED1, CLCN5, COX7B, CXCR3, CXorf31, CXorf49, CXorf49B, CXorf65, CXXC1P1, CYLC1, CYSLTR1, DGAT2L6, DGKK, DLG3, DMRTC1, DMRTC1B, EBP, EDA, EDA2R, EFNB1, ELK1, ERAS, ERCC6L, FAAH2, FAM104B, FAM120C, FAM155B, FAM156A, FAM156B, FAM226A, FAM226B, FAM46D, FGD1, FGF16, FLJ44635, FOXO4, FOXP3, FOXR2, FRMD8P1, FTSJ1, FTX, GAGE1, GAGE10, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE4, GAGE5, GAGE6, GAGE7, GAGE8, GATA1, GDPD2, GJB1, GLOD5, GNL3L, GPKOW, GPR173, GPR174, GRIPAP1, GSPT2, HDAC6, HDAC8, HDX, HEPH, HMGN5, HSD17B10, HUWE1, IGBP1, IL2RG, INE1, INGX, IQSEC2, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KDM5C, KIAA2022, KIF4A, KLF8, KRBOX4, LAS1L, LINC00269, LINC00684, LINC00891, LOC100132741, LOC101927528, LOC392452, LOC550643, LOC92249, LPAR4, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAP2K4P1, MED12, MIR1468, MIR188, MIR221, MIR222, MIR223, MIR362, MIR374A, MIR374B, MIR374C, MIR384, MIR421, MIR4328, MIR4536-1, MIR4769, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR545, MIR660, MIR676, MIR6857, MIR6894, MIR6895, MIR8088, MIR98, MIRLET7F2, MSN, MTMR8, MTRNR2L10, NAP1L2, NAP1L6, NDUFB11, NHSL2, NLGN3, NONO, NUDT10, NUDT11, OGT, OPHN1, OTUD5, OTUD6A, P2RY10, P2RY4, PABPC1L2A, PABPC1L2B, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PBDC1, PCSK1N, PDZD11, PFKFB1, PGAM4, PGK1, PHF8, PHKA1, PIM2, PIN4, PJA1, PLP2, PORCN, POU3F4, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RAB41, RBM10, RBM3, RGAG4, RGN, RIBC1, RLIM, RP2, RPS26P11, RPS4X, RPS6KA6, RRAGB, SH3BGRL, SHROOM4, SLC16A2, SLC35A2, SLC38A5, SLC7A3, SLC9A7, SMC1A, SNORA11, SNORA11C, SNORA11D, SNORA11E, SNX12, SPACA5, SPACA5B, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX6, SSX7, SSX8, SSX9, STARD8, SUV39H1, SYN1, SYP, TAF1, TAF9B, TBC1D25, TBX22, TEX11, TFE3, TIMM17B, TIMP1, TRO, TSIX, TSPYL2, TSR2, TTC3P1, UBA1, UBQLN2, UPRT, UQCRBP1, USP11, USP27X, USP27X-AS1, USP51, UXT, UXT-AS1, VSIG4, WAS, WDR13, WDR45, WNK3, XAGE1A, XAGE1B, XAGE1C, XAGE1D, XAGE1E, XAGE2, XAGE2B, XAGE3, XAGE5, XIST, YIPF6, ZC3H12B, ZC4H2, ZCCHC13, ZCCHC5, ZDHHC15, ZMYM3, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF674-AS1, ZNF81, ZXDA, ZXDB
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562478
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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