A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460523



Internal ID15173902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:42984494..43021914hg38UCSC Ensembl
Innerchr3:43025986..43063406hg19UCSC Ensembl
Innerchr3:43000990..43038410hg18UCSC Ensembl
Innerchr3:43000990..43038410hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3837421
hg1937421
hg1837421
hg1737421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537078
SamplesHGDP00514
Known GenesFAM198A
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)nsv460523
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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