A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582569



Internal ID16023292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105046454..105049076hg38UCSC Ensembl
Innerchr2:105662912..105665534hg19UCSC Ensembl
Innerchr2:105029344..105031966hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382623
hg192623
hg182623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6983n54
Supporting Variantsnssv914748, nssv914742, nssv914746, nssv914743, nssv914733, nssv914740, nssv914739, nssv914741, nssv914738, nssv914747, nssv914744, nssv914736, nssv914735, nssv914737, nssv914734, nssv914745
Samples
Known GenesMRPS9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582569
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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