A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953190



Internal ID16955377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:224559984..224580683hg38UCSC Ensembl
Outerchr2:225424701..225445400hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3820700
hg1920700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003128
SamplesBILGI_BIOE
Known GenesCUL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953190
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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