A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000059



Internal ID16946325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24045080..24046979hg38UCSC Ensembl
Outerchr16:24056401..24058300hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952956
Supporting Variants
SamplesBILGI_BIOE
Known GenesPRKCB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000059
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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