A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147238



Internal ID18853325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:43011607..43017808hg38UCSC Ensembl
Outerchr3:43053099..43059300hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg386202
hg196202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000014
SamplesKWB1
Known GenesFAM198A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147238
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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