A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996578



Internal ID17289530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:187951113..187967412hg38UCSC Ensembl
Outerchr3:187668901..187685200hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3816300
hg1916300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950031
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996578
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