A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012488



Internal ID19101705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191156997..191277390hg38UCSC Ensembl
Innerchr3:190874786..190995179hg19UCSC Ensembl
Innerchr3:192357480..192477873hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38120394
hg19120394
hg18120394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3611330
Samples
Known GenesOSTN, UTS2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012488
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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