A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6599077



Internal ID20972148
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 StatusM
Merged Variants
Supporting Variantsnssv18245059
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)nsv6599077
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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