A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953194



Internal ID16955381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227510785..227520584hg38UCSC Ensembl
Outerchr2:228375501..228385300hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg389800
hg199800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000904
SamplesBILGI_BIOE
Known GenesAGFG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953194
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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