A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459008



Internal ID15172387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113215368..113253214hg38UCSC Ensembl
Innerchr2:113972945..114010791hg19UCSC Ensembl
Innerchr2:113689416..113727261hg18UCSC Ensembl
Innerchr2:113689176..113727021hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3837847
hg1937847
hg1837846
hg1737846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535853
SamplesHGDP00772
Known GenesPAX8, PAX8-AS1
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)nsv459008
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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