A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949804



Internal ID17298678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16217078..16225877hg38UCSC Ensembl
Outerchr4:16218701..16227500hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996675
SamplesBILGI_BIOE
Known GenesTAPT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949804
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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