A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469114



Internal ID15529179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11763974..11776547hg38UCSC Ensembl
Innerchr12:11916908..11929481hg19UCSC Ensembl
Innerchr12:11808175..11820748hg18UCSC Ensembl
Innerchr12:11808175..11820748hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812574
hg1912574
hg1812574
hg1712574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv186n27
Supporting Variantsnssv544098
SamplesHGDP00890
Known GenesETV6
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)nsv469114
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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