A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582564



Internal ID16023287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105046454..105048580hg38UCSC Ensembl
Innerchr2:105662912..105665038hg19UCSC Ensembl
Innerchr2:105029344..105031470hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382127
hg192127
hg182127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6983n54
Supporting Variantsnssv914724, nssv914723
Samples
Known GenesMRPS9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582564
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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