A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147247



Internal ID18854718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:59674359..59674444hg38UCSC Ensembl
Outerchr20:58249414..58249499hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000021
SamplesKWB1
Known GenesPHACTR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147247
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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