A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955348



Internal ID16957535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133414057..133418456hg38UCSC Ensembl
Outerchr3:133132901..133137300hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001465
SamplesBILGI_BIOE
Known GenesBFSP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955348
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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