A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987116



Internal ID19221187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47355749..47357549hg38UCSC Ensembl
Outerchr11:47377300..47379100hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132343
Supporting Variants
SamplesKWS1
Known GenesSPI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987116
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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