A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003094



Internal ID16949360
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 StatusS
Merged Variantsnsv954448
Supporting Variants
SamplesBILGI_BIOE
Known GenesSLC40A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003094
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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