A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148440



Internal ID18854155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:322799..324700hg38UCSC Ensembl
Outerchr19:322799..324700hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000478
SamplesKWB1
Known GenesMIER2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148440
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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