A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582014



Internal ID16369423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54332656..54340304hg38UCSC Ensembl
Innerchr2:54559793..54567441hg19UCSC Ensembl
Innerchr2:54413297..54420945hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg387649
hg197649
hg187649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6891n54
Supporting Variantsnssv909413
Samples
Known GenesC2orf73
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582014
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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