A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974464



Internal ID22749399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49769209..52432690hg38UCSC Ensembl
chr19:50272466..52935943hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382663482
hg192663478
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402494
Samples
Known GenesACPT, AKT1S1, AP2A1, ASPDH, ATF5, C19orf48, C19orf81, CD33, CEACAM18, CLDND2, CLEC11A, CTU1, EMC10, ETFB, FAM71E1, FLJ26850, FLJ30403, FPR1, FPR2, FPR3, FUZ, GPR32, HAS1, HCCAT3, IGLON5, IL4I1, IZUMO2, JOSD2, KCNC3, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KLKP1, LIM2, LOC100129083, LOC147646, LRRC4B, MED25, MGC45922, MIR125A, MIR4749, MIR4750, MIR4751, MIR643, MIR6799, MIR6800, MIR6801, MIR8074, MIR99B, MIRLET7E, MYBPC2, MYH14, NAPSA, NAPSB, NKG7, NR1H2, NUP62, PNKP, POLD1, PPP2R1A, PTOV1, PTOV1-AS1, SHANK1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC16, SIGLEC17P, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, SNAR-F, SNORD88A, SNORD88B, SNORD88C, SPACA6P, SPACA6P-AS, SPIB, SYT3, TBC1D17, VRK3, VSIG10L, ZNF175, ZNF350, ZNF432, ZNF473, ZNF480, ZNF528, ZNF534, ZNF577, ZNF610, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF766, ZNF836, ZNF841, ZNF880
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974464
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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