A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001746



Internal ID16948012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:68733769..68781868hg38UCSC Ensembl
Outerchr2:68960901..69009000hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3848100
hg1948100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953141
Supporting Variants
SamplesBILGI_BIOE
Known GenesARHGAP25
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001746
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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