A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584433



Internal ID16371842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214144634..214182472hg38UCSC Ensembl
Innerchr2:215009358..215047196hg19UCSC Ensembl
Innerchr2:214717603..214755441hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3837839
hg1937839
hg1837839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv931192
Samples
Known GenesSPAG16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584433
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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