A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5005n223



Internal ID22807973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125931297..130612263hg38UCSC Ensembl
chr3:125650140..130331107hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384680967
hg194680968
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6566785, nsv6563554
Samples
Known GenesABTB1, ACAD9, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ALG1L, ALG1L2, C3orf22, C3orf27, C3orf56, CCDC37, CHCHD6, CHST13, CNBP, COL6A4P2, COL6A5, COL6A6, COPG1, DNAJB8, DNAJB8-AS1, EEFSEC, EFCAB12, EFCC1, FAM86HP, GATA2, GP9, H1FOO, H1FX, H1FX-AS1, HMCES, IFT122, ISY1, ISY1-RAB43, KBTBD12, KIAA1257, KLF15, LOC100506907, LOC653712, LOC90246, MBD4, MCM2, MGLL, MIR6825, MIR6826, NUP210P1, PLXNA1, PLXND1, PODXL2, RAB43, RAB7A, RHO, ROPN1B, RPL32P3, RPN1, RUVBL1, SEC61A1, SLC41A3, SNORA7B, TMCC1, TMCC1-AS1, TPRA1, TRH, TXNRD3, TXNRD3NB, UROC1, ZXDC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5005n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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