A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6595594



Internal ID20968665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41797668..42527301hg38UCSC Ensembl
chr19:42301600..43031453hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38729634
hg19729854
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3534n223
Supporting Variantsnssv18246294
Samples
Known GenesARHGEF1, ATP1A3, CD79A, CEACAM1, CEACAM3, CIC, CNFN, CXCL17, DEDD2, DMRTC2, ERF, GRIK5, GSK3A, LIPE, LIPE-AS1, LOC100505622, LYPD4, MEGF8, MIR4323, MIR6797, MIR8077, PAFAH1B3, POU2F2, PRR19, RABAC1, RPS19, TMEM145, ZNF526, ZNF574
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6595594
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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