A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951402



Internal ID17300276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:114461879..114468578hg38UCSC Ensembl
Outerchr1:115004501..115011200hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997206
SamplesBILGI_BIOE
Known GenesTRIM33
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951402
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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