A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558142



Internal ID331215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102295972..141288199hg38UCSC Ensembl
chr2:102912432..142045768hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916899
Samples
Known GenesACMSD, ACOXL, ACTR3, AMER3, AMMECR1L, ANAPC1, ANKRD30BL, ARHGEF4, BCL2L11, BIN1, BUB1, C1QL2, C2orf27A, C2orf27B, C2orf40, C2orf49, C2orf76, CBWD2, CCDC115, CCDC138, CCDC74A, CCDC74B, CCDC93, CCNT2, CCNT2-AS1, CFC1, CFC1B, CHCHD5, CKAP2L, CLASP1, CNTNAP5, CXCR4, CYP27C1, CYP4F30P, CYP4F62P, DARS, DBI, DDX11L2, DDX18, DPP10, DPP10-AS1, EDAR, EN1, EPB41L5, ERCC3, FAM138B, FAM168B, FAR2P1, FAR2P2, FBLN7, FHL2, FLJ42351, FOXD4L1, GCC2, GLI2, GPR148, GPR17, GPR39, GPR45, GYPC, HNMT, HS6ST1, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1RL1, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, IMP4, INHBB, INSIG2, IWS1, LCT, LIMS1, LIMS2, LIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01087, LINC01101, LINC01102, LINC01106, LINC01114, LINC01120, LINC01123, LOC100287010, LOC100288570, LOC100499194, LOC100506421, LOC100507334, LOC100507600, LOC150776, LOC285000, LOC389033, LOC401010, LOC440895, LOC440900, LOC440910, LOC646743, LRP1B, LYPD1, MALL, MAP3K19, MAP3K2, MARCO, MCM6, MED15P9, MERTK, MFSD9, MGAT5, MIR128-1, MIR3679, MIR4265, MIR4266, MIR4267, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4436B1, MIR4436B2, MIR4772, MIR4782, MIR4783, MIR4784, MIR663B, MIR7853, MRPS9, MYO7B, MZT2A, MZT2B, NCK2, NCKAP5, NIFK, NIFK-AS1, NPHP1, NXPH2, PAX8, PAX8-AS1, PCDP1, PLEKHB2, PLGLA, POLR1B, POLR2D, POTEE, POTEF, POTEI, POTEJ, POTEKP, POU3F3, PROC, PSD4, PTPN18, PTPN4, R3HDM1, RAB3GAP1, RAB6C, RAB6C-AS1, RABL2A, RALB, RANBP2, RGPD3, RGPD4, RGPD4-AS1, RGPD5, RGPD6, RGPD8, RNU4ATAC, RNU6-81P, RPL23AP7, SAP130, SCTR, SEPT10, SFT2D3, SH3RF3, SH3RF3-AS1, SLC20A1, SLC35F5, SLC5A7, SLC9A2, SLC9A4, SMPD4, SOWAHC, SPOPL, ST6GAL2, STEAP3, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4, TFCP2L1, TGFBRAP1, THSD7B, TISP43, TMEM163, TMEM177, TMEM182, TMEM185B, TMEM37, TMEM87B, TSN, TTL, TUBA3D, TUBA3E, UBXN4, UGGT1, UXS1, WASH2P, WDR33, WTH3DI, YY1P2, ZC3H6, ZC3H8, ZRANB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558142
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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