A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001447



Internal ID17294399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:120088754..120093553hg38UCSC Ensembl
Outerchr3:119807601..119812400hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955330
Supporting Variants
SamplesBILGI_BIOE
Known GenesGSK3B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001447
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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