A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582686



Internal ID16023409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110121984..110206738hg38UCSC Ensembl
Innerchr2:110879561..110964315hg19UCSC Ensembl
Innerchr2:110236850..110321604hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3884755
hg1984755
hg1884755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7004n54
Supporting Variantsnssv916073
Samples
Known GenesNPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582686
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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