A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999765



Internal ID16946031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6637453..6637567hg38UCSC Ensembl
Outerchr16:6687454..6687568hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954518
Supporting Variants
SamplesBILGI_BIOE
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999765
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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