A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217491



Internal ID20784531
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 StatusS
Merged Variantsnsv6581741
Supporting Variants
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)nssv18217491
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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