A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001448



Internal ID17294400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125655657..125669656hg38UCSC Ensembl
Outerchr3:125374501..125388500hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3814000
hg1914000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955331
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001448
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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