A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583689



Internal ID16024412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177603280..177645092hg38UCSC Ensembl
Innerchr2:178468008..178509820hg19UCSC Ensembl
Innerchr2:178176254..178218066hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3841813
hg1941813
hg1841813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv926995
Samples
Known GenesPDE11A, TTC30A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583689
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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