A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999738



Internal ID18841654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152305723..152306924hg38UCSC Ensembl
Outerchr1:152278199..152279400hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152559
Supporting Variants
SamplesKWB1
Known GenesFLG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999738
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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