A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6580372



Internal ID20953443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72236607..79483477hg38UCSC Ensembl
chr17:70232748..77479559hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg387246871
hg197246812
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18244548
Samples
Known GenesAANAT, ACOX1, AFMID, ARMC7, ATP5H, BIRC5, BTBD17, C17orf77, C17orf80, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CASKIN2, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, CDC42EP4, CDK3, CDR2L, COG1, CPSF4L, CYGB, CYTH1, DNAH17, DNAH17-AS1, DNAI2, ENGASE, EVPL, EXOC7, FADS6, FAM104A, FBF1, FDXR, FLJ45079, FOXJ1, GALK1, GALR2, GGA3, GPR142, GPRC5C, GRB2, GRIN2C, H3F3B, HID1, HN1, ICT1, ITGB4, JMJD6, KCTD2, KIAA0195, KIF19, LGALS3BP, LINC00338, LINC00469, LINC00511, LINC00673, LLGL2, LOC100132174, LOC100134391, LOC100287042, LOC100507351, LOC100653515, LOC100996291, LOC400620, METTL23, MFSD11, MGAT5B, MGC16275, MIF4GD, MIR3615, MIR3678, MIR4316, MIR4738, MIR636, MIR6516, MIR6785, MIR6868, MRPL38, MRPS7, MXRA7, MYO15B, NAT9, NT5C, NUP85, OTOP2, OTOP3, PGS1, PRCD, PRPSAP1, QRICH2, RAB37, RBFOX3, RECQL5, RHBDF2, RNF157, RNF157-AS1, RPL38, SAP30BP, SCARNA16, SDK2, SEC14L1, SEPT9, SLC16A5, SLC25A19, SLC39A11, SLC9A3R1, SMIM5, SMIM6, SNHG16, SNORD1A, SNORD1B, SNORD1C, SOCS3, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TEN1, TEN1-CDK3, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM235, TNRC6C, TNRC6C-AS1, TRIM47, TRIM65, TSEN54, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, WBP2, ZACN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6580372
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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