A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460704



Internal ID15520769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75179222..75273092hg38UCSC Ensembl
Innerchr3:75228373..75322243hg19UCSC Ensembl
Innerchr3:75311063..75404933hg18UCSC Ensembl
Innerchr3:75311063..75404933hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3893871
hg1993871
hg1893871
hg1793871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537239
SamplesHGDP00160
Known GenesMIR4444-1
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)nsv460704
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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