A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460360



Internal ID15173739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4827274..4928648hg38UCSC Ensembl
Innerchr3:4868958..4970333hg19UCSC Ensembl
Innerchr3:4843958..4945333hg18UCSC Ensembl
Innerchr3:4843958..4945333hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38101375
hg19101376
hg18101376
hg17101376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536952
SamplesHGDP01302
Known GenesBHLHE40-AS1, ITPR1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv460360
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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