A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999061



Internal ID19191005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54238523..54246248hg38UCSC Ensembl
Outerchr19:54742399..54750100hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387726
hg197702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151876
Supporting Variants
SamplesKWB1
Known GenesLILRA6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999061
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer