A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140318



Internal ID19278357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8134704..8135506hg38UCSC Ensembl
Outerchr19:8199588..8200390hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38803
hg19803
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979029
SamplesKWS2
Known GenesFBN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140318
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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