A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001353



Internal ID16947619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:30629909..30647408hg38UCSC Ensembl
Outerchr3:30671401..30688900hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3817500
hg1917500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954457
Supporting Variants
SamplesBILGI_BIOE
Known GenesTGFBR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001353
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