A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955259



Internal ID16957446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143127532..143263531hg38UCSC Ensembl
Outerchr2:143885101..144021100hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38136000
hg19136000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003037
SamplesBILGI_BIOE
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955259
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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