A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954448



Internal ID16956635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:189550075..189580174hg38UCSC Ensembl
Outerchr2:190414801..190444900hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3830100
hg1930100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003094
SamplesBILGI_BIOE
Known GenesSLC40A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954448
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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