A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458912



Internal ID15172291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14859792..14889752hg38UCSC Ensembl
Innerchr20:14840438..14870398hg19UCSC Ensembl
Innerchr20:14788438..14818398hg18UCSC Ensembl
Innerchr20:14788438..14818398hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3829961
hg1929961
hg1829961
hg1729961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv506n27
Supporting Variantsnssv535772
SamplesHGDP00700
Known GenesMACROD2, MACROD2-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)nsv458912
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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