A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6581741



Internal ID20954812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123471879..125706143hg38UCSC Ensembl
chr12:123956426..126190689hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382234265
hg192234264
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18217491
Samples
Known GenesAACS, ATP6V0A2, BRI3BP, CCDC92, DDX55, DHX37, DNAH10, EIF2B1, FAM101A, GTF2H3, MIR3908, MIR5188, MIR6880, NCOR2, RILPL1, SCARB1, SNRNP35, TCTN2, TMED2, TMEM132B, UBC, ZNF664, ZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6581741
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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