A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18249119



Internal ID20816159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5796324..7362002hg38UCSC Ensembl
chr19:5796335..7426888hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381565679
hg191630554
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6599224
Supporting Variants
Samples
Known GenesACER1, ACSBG2, ALKBH7, C3, CAPS, CD70, CLPP, CRB3, DENND1C, EMR1, EMR4P, FLJ25758, FUT3, FUT5, FUT6, GPR108, GTF2F1, INSR, KHSRP, LOC100128568, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MIR3940, MIR6790, MIR6791, MIR6885, MLLT1, NDUFA11, NRTN, PSPN, RANBP3, RFX2, SH2D3A, SLC25A23, SLC25A41, TNFSF14, TNFSF9, TRIP10, TUBB4A, VAV1, VMAC, ZNF557
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18249119
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00021


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