A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv914757



Internal ID15862027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105047202..105049350hg38UCSC Ensembl
Innerchr2:105663660..105665808hg19UCSC Ensembl
Innerchr2:105030092..105032240hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382149
hg192149
hg182149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582576
Supporting Variants
Samples
Known GenesMRPS9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv914757
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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