A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955260



Internal ID17304133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:144491734..144508733hg38UCSC Ensembl
Outerchr2:145249301..145266300hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3817000
hg1917000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003038
SamplesBILGI_BIOE
Known GenesZEB2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955260
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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