A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000135



Internal ID16946401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48365790..48384189hg38UCSC Ensembl
Outerchr16:48399701..48418100hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3818400
hg1918400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952668
Supporting Variants
SamplesBILGI_BIOE
Known GenesMIR548AE2, SIAH1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000135
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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