A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6592364



Internal ID20965435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2078667..6081513hg38UCSC Ensembl
chr17:1981961..5984833hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg384002847
hg194002873
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18241516
Samples
Known GenesALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, C17orf107, C17orf85, C1QBP, CAMKK1, CAMTA2, CHRNE, CLUH, CTNS, CXCL16, CYB5D2, DERL2, DHX33, EMC6, ENO3, GGT6, GLTPD2, GP1BA, GSG2, INCA1, ITGAE, KIF1C, LOC100130950, LOC101559451, LOC284009, LOC339166, LOC728392, MED11, METTL16, MINK1, MIR1253, MIR6776, MIR6864, MIR6865, MIS12, MNT, MYBBP1A, NLRP1, NUP88, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, OR3A4P, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PFN1, PLD2, PSMB6, RABEP1, RAP1GAP2, RNF167, RPAIN, SCIMP, SGSM2, SHPK, SLC25A11, SLC52A1, SMG6, SMTNL2, SNORD91A, SNORD91B, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TM4SF5, TRPV1, TRPV3, TSR1, UBE2G1, USP6, VMO1, WSCD1, ZFP3, ZMYND15, ZNF232, ZNF594, ZZEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6592364
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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