A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18245059



Internal ID20812099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12342953..19691233hg38UCSC Ensembl
chr19:12453767..19802042hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg387348281
hg197348276
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6599077
Supporting Variants
Samples
Known GenesABHD8, AKAP8, AKAP8L, ANKLE1, ANO8, AP1M1, ARMC6, ARRDC2, ASF1B, ASNA1, ATP13A1, B3GNT3, BABAM1, BEST2, BRD4, BST2, C19orf43, C19orf44, C19orf53, C19orf57, C19orf60, C19orf67, CACNA1A, CALR, CALR3, CASP14, CC2D1A, CCDC105, CCDC124, CCDC130, CD97, CERS1, CHERP, CIB3, CILP2, CLEC17A, COLGALT1, COMP, COPE, CPAMD8, CRLF1, CRTC1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F24P, CYP4F3, CYP4F8, DAND5, DCAF15, DDA1, DDX39A, DDX49, DHPS, DNAJB1, DNASE2, ELL, EMR2, EMR3, EPHX3, EPS15L1, F2RL3, FAM129C, FAM32A, FARSA, FBXW9, FCHO1, FKBP8, GADD45GIP1, GATAD2A, GCDH, GDF1, GDF15, GIPC1, GMIP, GTPBP3, HAPLN4, HAUS8, HOMER3, HOOK2, HSH2D, IER2, IFI30, IL12RB1, IL27RA, ILVBL, INSL3, ISYNA1, JAK3, JUNB, JUND, KCNN1, KIAA1683, KLF1, KLF2, KLHL26, KXD1, LINC00661, LINC00905, LOC100507373, LOC113230, LOC284454, LOC729966, LPAR2, LPHN1, LRRC25, LSM4, LYL1, MAN2B1, MAP1S, MAST1, MAST3, MAU2, MED26, MEF2B, MEF2BNB, MEF2BNB-MEF2B, MIR1199, MIR1470, MIR181C, MIR181D, MIR23A, MIR24-2, MIR27A, MIR3188, MIR3189, MIR639, MIR6515, MIR6794, MIR6795, MPV17L2, MRI1, MRPL34, MVB12A, MYO9B, NACC1, NANOS3, NCAN, NDUFA13, NDUFB7, NFIX, NOTCH3, NR2C2AP, NR2F6, NWD1, NXNL1, OCEL1, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, PALM3, PBX4, PDE4C, PGLS, PGLYRP2, PGPEP1, PIK3R2, PKN1, PLVAP, PODNL1, PRDX2, PRKACA, PTGER1, RAB3A, RAB8A, RAD23A, RASAL3, RFX1, RFXANK, RLN3, RNASEH2A, RPL18A, RTBDN, SAMD1, SIN3B, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SMIM7, SNORA68, SNORD41, SSBP4, STX10, SUGP1, SUGP2, SYCE2, SYDE1, TECR, TM6SF2, TMEM161A, TMEM221, TMEM38A, TMEM59L, TNPO2, TPM4, TRMT1, TSSK6, UBA52, UCA1, UNC13A, UPF1, USE1, USHBP1, WDR83, WDR83OS, WIZ, YJEFN3, ZNF101, ZNF333, ZNF442, ZNF443, ZNF490, ZNF564, ZNF709, ZNF791, ZNF799, ZSWIM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18245059
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00028


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