A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952077



Internal ID16954264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212286959..212317458hg38UCSC Ensembl
Outerchr1:212460301..212490800hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3830500
hg1930500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000196
SamplesBILGI_BIOE
Known GenesPPP2R5A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952077
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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