A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1819n106



Internal ID20161176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54896466..55127211hg38UCSC Ensembl
chr19:55407830..55638579hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38230746
hg19230750
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1116465, nsv1133011
SamplesKWS2, KWS1
Known GenesEPS8L1, GP6, NCR1, NLRP2, NLRP7, PPP1R12C, RDH13, RNU6-35P, RNU6-64P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1819n106
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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