A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582570



Internal ID16023293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105046454..105049350hg38UCSC Ensembl
Innerchr2:105662912..105665808hg19UCSC Ensembl
Innerchr2:105029344..105032240hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382897
hg192897
hg182897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6984n54
Supporting Variantsnssv914750, nssv914749
Samples
Known GenesMRPS9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582570
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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