A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582568



Internal ID16023291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105046454..105049021hg38UCSC Ensembl
Innerchr2:105662912..105665479hg19UCSC Ensembl
Innerchr2:105029344..105031911hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382568
hg192568
hg182568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6983n54
Supporting Variantsnssv914731, nssv914730, nssv914729, nssv914732
Samples
Known GenesMRPS9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582568
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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