A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999209



Internal ID16945475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6634500..6639199hg38UCSC Ensembl
Outerchr16:6684501..6689200hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952912
Supporting Variants
SamplesBILGI_BIOE
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999209
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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