A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18259569



Internal ID20826609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126481307..130612263hg38UCSC Ensembl
chr3:126200150..130331107hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384130957
hg194130958
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6563554
Supporting Variants
Samples
Known GenesABTB1, ACAD9, ALG1L2, C3orf22, C3orf27, C3orf56, 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, LOC653712, LOC90246, MBD4, MCM2, MGLL, MIR6825, MIR6826, NUP210P1, PLXNA1, PLXND1, PODXL2, RAB43, RAB7A, RHO, RPL32P3, RPN1, RUVBL1, SEC61A1, SNORA7B, TMCC1, TMCC1-AS1, TPRA1, TRH, TXNRD3, TXNRD3NB, UROC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18259569
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer