A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954859



Internal ID16957046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52277285..52410684hg38UCSC Ensembl
Outerchr3:52311301..52444700hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38133400
hg19133400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001389
SamplesBILGI_BIOE
Known GenesBAP1, DNAH1, GLYCTK, MIR135A1, PHF7, WDR82
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954859
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer