A curated catalogue of human genomic structural variation

Variant Details

Variant: nssv16950558

Internal ID

34393

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr4:68996170..113894177	hg38	UCSC Ensembl
	chr4:69861888..114815333	hg19	UCSC Ensembl

Cytoband

4q13.2

Allele length

Assembly	Allele length
hg38	70
hg19	70

Variant Type

CNV insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

S

Merged Variants

Supporting Variants

Samples

Known Genes

ABCG2, ADAMTS3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFF1, AFM, AFP, AGPAT9, AIMP1, ALB, ALPK1, AMBN, AMTN, ANK2, ANKRD17, ANTXR2, ANXA3, AP1AR, AREG, ARHGAP24, ARHGEF38, ARHGEF38-IT1, ART3, ATOH1, BANK1, BDH2, BMP2K, BMP3, BMPR1B, BTC, C4orf17, C4orf21, C4orf22, C4orf26, C4orf32, C4orf36, C4orf40, CABS1, CAMK2D, CASP6, CCDC109B, CCDC158, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CENPE, CFI, CISD2, CNOT6L, COL25A1, COPS4, COQ2, COX18, CSN1S1, CSN1S2AP, CSN1S2BP, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL9, CXXC4, CYP2U1, DAPP1, DCK, DDIT4L, DKK2, DMP1, DNAJB14, DSPP, EGF, EIF4E, ELOVL6, EMCN, EMCN-IT3, ENAM, ENOPH1, ENPEP, EPGN, EREG, ETNPPL, FAM13A, FAM13A-AS1, FAM175A, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FLJ20021, FRAS1, G3BP2, GAR1, GC, GIMD1, GK2, GPRIN3, GRID2, GRSF1, GSTCD, H2AFZ, HADH, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, HTN1, HTN3, IBSP, IGJ, IL8, INTS12, KLHL8, LAMTOR3, LARP7, LEF1, LEF1-AS1, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LOC100506746, LOC100507053, LOC256880, LOC441025, LOC644248, LOC728040, LRIT3, MANBA, MAPK10, MEPE, METAP1, MIR1243, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR3684, MIR4450, MIR4451, MIR5705, MIR575, MIR8066, MIR8082, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MTTP, MUC7, NAA11, NAAA, NAP1L5, NEUROG2, NFKB1, NKX6-1, NPFFR2, NPNT, NUDT9, NUP54, ODAM, OSTC, PAPSS1, PAQR3, PARM1, PCAT4, PCNAP1, PDHA2, PDLIM5, PF4, PF4V1, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PPA2, PPBP, PPBPP2, PPEF2, PPM1K, PPP3CA, PRDM8, PRKG2, PROL1, PTPN13, PYURF, RAP1GDS1, RASGEF1B, RASSF6, RCHY1, RPL34, RPL34-AS1, RRH, RUFY3, SCARB2, SCD5, SDAD1, SEC24B, SEC24B-AS1, SEC31A, SEPT11, SGMS2, SHROOM3, SLC10A6, SLC39A8, SLC4A4, SLC9B1, SLC9B2, SMARCAD1, SMR3A, SMR3B, SNCA, SOWAHB, SPARCL1, SPP1, STATH, STBD1, STPG2, STPG2-AS1, SULT1B1, SULT1E1, TACR3, TBCK, TET2, THAP6, THAP9, THAP9-AS1, TIFA, TIGD2, TMEM150C, TRMT10A, TSPAN5, UBE2D3, UGT2A1, UGT2A2, UGT2B10, UGT2B11, UGT2B28, UGT2B4, UGT2B7, UNC5C, USO1, UTP3, WDFY3, WDFY3-AS2

Method

Sequencing

Analysis

Platform

Comments

Reference

Byrska_Bishop_et_al_2022

Pubmed ID

Accession Number(s)

Frequency

Sample Size	3202
Observed Gain	1
Observed Loss	0
Observed Complex	0
Frequency	0.237857