A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954483



Internal ID16956670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48401594..48436090hg38UCSC Ensembl
Outerchr3:48443001..48477500hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3834497
hg1934500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001379
SamplesBILGI_BIOE
Known GenesCCDC51, PLXNB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954483
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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