A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460513



Internal ID15520578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:41489439..41546186hg38UCSC Ensembl
Innerchr3:41530930..41587677hg19UCSC Ensembl
Innerchr3:41505934..41562681hg18UCSC Ensembl
Innerchr3:41505934..41562681hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3856748
hg1956748
hg1856748
hg1756748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537071
SamplesHGDP01234
Known GenesULK4
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)nsv460513
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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