A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000117



Internal ID17293069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:34163134..34214333hg38UCSC Ensembl
Outerchr16:33965601..34016800hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3851200
hg1951200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952650
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000117
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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