A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv250n206



Internal ID22755554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41749279..42527281hg38UCSC Ensembl
chr19:42253187..43031433hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38778003
hg19778247
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5562413, nsv5554149
Samples
Known GenesARHGEF1, ATP1A3, CD79A, CEACAM1, CEACAM3, CEACAM6, 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
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv250n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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