A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954449



Internal ID16956636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190931275..190941774hg38UCSC Ensembl
Outerchr2:191796001..191806500hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3810500
hg1910500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003095
SamplesBILGI_BIOE
Known GenesGLS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954449
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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