A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581245



Internal ID16021968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28513131..28546414hg38UCSC Ensembl
Innerchr2:28735998..28769281hg19UCSC Ensembl
Innerchr2:28589502..28622785hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3833284
hg1933284
hg1833284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6745n54
Supporting Variantsnssv1150194
SamplesHGDP00770
Known GenesPLB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581245
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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