A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460449



Internal ID15520514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:14600771..14629056hg38UCSC Ensembl
Innerchr3:14642278..14670563hg19UCSC Ensembl
Innerchr3:14617282..14645567hg18UCSC Ensembl
Innerchr3:14617282..14645567hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3828286
hg1928286
hg1828286
hg1728286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537018
SamplesHGDP01296
Known Genes
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)nsv460449
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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