A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006289



Internal ID18748820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133418820..133467964hg38UCSC Ensembl
Innerchr3:133137664..133186808hg19UCSC Ensembl
Innerchr3:134620354..134669498hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3849145
hg1949145
hg1849145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4903n100
Supporting Variantsnssv3607144
Samples
Known GenesBFSP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006289
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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