A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723527



Internal ID147193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41749279..42444786hg38UCSC Ensembl
chr19:42253187..42948938hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38695508
hg19695752
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554149
Supporting Variants
Samples
Known GenesARHGEF1, ATP1A3, CD79A, 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
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723527
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.074774


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