A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148860



Internal ID19202783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42177247..42183248hg38UCSC Ensembl
Outerchr19:42681399..42687400hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997648
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148860
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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