A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140251



Internal ID18937717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49769252..52432654hg38UCSC Ensembl
Outerchr19:50272509..52935907hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382663403
hg192663399
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978964
SamplesKWS2
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
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140251
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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