A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582566



Internal ID16023289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105046454..105048833hg38UCSC Ensembl
Innerchr2:105662912..105665291hg19UCSC Ensembl
Innerchr2:105029344..105031723hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382380
hg192380
hg182380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6983n54
Supporting Variantsnssv914727, nssv914726
Samples
Known GenesMRPS9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582566
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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