A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001703



Internal ID16947969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:28178134..28183233hg38UCSC Ensembl
Outerchr2:28401001..28406100hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953762
Supporting Variants
SamplesBILGI_BIOE
Known GenesBRE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001703
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