A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584640



Internal ID16372049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228637903..228725757hg38UCSC Ensembl
Innerchr2:229502619..229590473hg19UCSC Ensembl
Innerchr2:229210863..229298717hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3887855
hg1987855
hg1887855
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150751
SamplesHGDP00654
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584640
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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