A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6583876



Internal ID20956947
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 StatusM
Merged Variants
Supporting Variantsnssv18225050
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)nsv6583876
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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