A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581303



Internal ID16022026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33000138..33001466hg38UCSC Ensembl
Innerchr2:33225205..33226533hg19UCSC Ensembl
Innerchr2:33078709..33080037hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381329
hg191329
hg181329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6753n54
Supporting Variantsnssv904885
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581303
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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