A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152206



Internal ID19200060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:175719696..175722697hg38UCSC Ensembl
Outerchr5:175146699..175149700hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996813
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152206
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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