A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147761



Internal ID18852742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55153716..55153771hg38UCSC Ensembl
Outerchr19:55665084..55665139hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996552
SamplesKWB1
Known GenesTNNI3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147761
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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