A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460726



Internal ID15520791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:78246514..78406617hg38UCSC Ensembl
Innerchr3:78295664..78455767hg19UCSC Ensembl
Innerchr3:78378354..78538457hg18UCSC Ensembl
Innerchr3:78378354..78538457hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38160104
hg19160104
hg18160104
hg17160104
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537250
SamplesHGDP00703
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)nsv460726
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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