A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955343



Internal ID17304216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128183258..128186457hg38UCSC Ensembl
Outerchr3:127902101..127905300hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001460
SamplesBILGI_BIOE
Known GenesEEFSEC
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955343
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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