A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954494



Internal ID17303368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152423512..152445511hg38UCSC Ensembl
Outerchr3:152141301..152163300hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg3822000
hg1922000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001484
SamplesBILGI_BIOE
Known GenesMBNL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954494
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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