A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150276



Internal ID18849899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54896467..55127432hg38UCSC Ensembl
Outerchr19:55407831..55638800hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38230966
hg19230970
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003578
SamplesKWB1
Known GenesEPS8L1, GP6, NCR1, NLRP2, NLRP7, PPP1R12C, RDH13, RNU6-35P, RNU6-64P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150276
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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