A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147308



Internal ID18851850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133967886..133968008hg38UCSC Ensembl
Outerchr3:133686730..133686852hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000079
SamplesKWB1
Known GenesSLCO2A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147308
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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