A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996720



Internal ID18842682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1717060..1718661hg38UCSC Ensembl
Outerchr1:1648499..1650100hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152112
Supporting Variants
SamplesKWB1
Known GenesCDK11A, CDK11B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996720
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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