A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18225050



Internal ID20792090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118054469..123705974hg38UCSC Ensembl
chr12:118492274..124190521hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg385651506
hg195698248
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6583876
Supporting Variants
Samples
Known GenesABCB9, ACADS, ANAPC5, ARL6IP4, B3GNT4, BCL7A, C12orf43, C12orf65, CABP1, CAMKK2, CCDC60, CCDC62, CCDC64, CDK2AP1, CIT, CLIP1, COQ5, COX6A1, DDX55, DENR, DIABLO, DYNLL1, DYNLL1-AS1, EIF2B1, GATC, GCN1L1, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HNF1A-AS1, HPD, HSPB8, IL31, KDM2B, KNTC1, LINC00934, LOC100507066, LOC100507091, LOC101593348, LOC338799, LRRC43, MIR1178, MIR3908, MIR4304, MIR4498, MIR4700, MIR7107, MIR8072, MLEC, MLXIP, MORN3, MPHOSPH9, MSI1, OASL, OGFOD2, ORAI1, P2RX4, P2RX7, PEBP1, PITPNM2, PLA2G1B, POP5, PRKAB1, PSMD9, PXN, PXN-AS1, RAB35, RHOF, RILPL1, RILPL2, RNF10, RNF34, RPLP0, RSRC2, SBNO1, SETD1B, SETD8, SIRT4, SNRNP35, SPPL3, SRRM4, SRSF9, SUDS3, TAOK3, TCTN2, TMED2, TMEM120B, TMEM233, TRIAP1, UNC119B, VPS33A, VPS37B, VSIG10, WDR66, WSB2, ZCCHC8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18225050
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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