A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584819



Internal ID16025542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240654527..240707925hg38UCSC Ensembl
Innerchr2:241593944..241647342hg19UCSC Ensembl
Innerchr2:241242617..241296015hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3853399
hg1953399
hg1853399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933833
Samples
Known GenesAQP12A, AQP12B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584819
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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