A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584809



Internal ID16372218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240429634..240471872hg38UCSC Ensembl
Innerchr2:241369051..241411289hg19UCSC Ensembl
Innerchr2:241017724..241059962hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3842239
hg1942239
hg1842239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933825
Samples
Known GenesGPC1, MIR149, PP14571
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584809
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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