A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146802



Internal ID19197222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:32739093..32740994hg38UCSC Ensembl
Outerchr19:33229999..33231900hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995958
SamplesKWB1
Known GenesTDRD12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146802
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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