A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460834



Internal ID15174213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119665316..119740004hg38UCSC Ensembl
Innerchr3:119384163..119458851hg19UCSC Ensembl
Innerchr3:120866853..120941541hg18UCSC Ensembl
Innerchr3:120866853..120941541hg17UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3874689
hg1974689
hg1874689
hg1774689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537334
SamplesHGDP00552
Known GenesCOX17, MAATS1
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)nsv460834
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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