A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973346



Internal ID22748281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118054601..123705841hg38UCSC Ensembl
chr12:118492406..124190388hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg385651241
hg195697983
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350620
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
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973346
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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