A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584970



Internal ID16025693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241569597..241603273hg38UCSC Ensembl
Innerchr2:242509012..242542688hg19UCSC Ensembl
Innerchr2:242157685..242191361hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3833677
hg1933677
hg1833677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv934774
Samples
Known GenesBOK, THAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584970
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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