A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001483



Internal ID16947749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152196212..152409011hg38UCSC Ensembl
Outerchr3:151914001..152126800hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38212800
hg19212800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954493
Supporting Variants
SamplesBILGI_BIOE
Known GenesMBNL1, MBNL1-AS1, TMEM14E
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001483
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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