A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582373



Internal ID16023096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86747195..86881088hg38UCSC Ensembl
Innerchr2:86974318..87108211hg19UCSC Ensembl
Innerchr2:86827829..86961722hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38133894
hg19133894
hg18133894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150784
Samples1780862041_A
Known GenesANAPC1P1, CD8A, CD8B, RMND5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582373
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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