A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460814



Internal ID15520879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:109476199..109662581hg38UCSC Ensembl
Innerchr3:109195046..109381428hg19UCSC Ensembl
Innerchr3:110677736..110864118hg18UCSC Ensembl
Innerchr3:110677736..110864118hg17UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38186383
hg19186383
hg18186383
hg17186383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537318
SamplesHGDP01179
Known GenesFLJ25363
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)nsv460814
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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