A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116465



Internal ID18919323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54896468..55127165hg38UCSC Ensembl
Outerchr19:55407832..55638533hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38230698
hg19230702
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1819n106
Supporting Variantsnssv3978646
SamplesKWS2
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)nsv1116465
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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