A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001869



Internal ID17294821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112961224..112970623hg38UCSC Ensembl
Outerchr2:113718801..113728200hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954793
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001869
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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