A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457332



Internal ID15170711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1482836..1510110hg38UCSC Ensembl
Innerchr16:1532837..1560111hg19UCSC Ensembl
Innerchr16:1472838..1500112hg18UCSC Ensembl
Innerchr16:1472838..1500112hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3827275
hg1927275
hg1827275
hg1727275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534541
SamplesHGDP00546
Known GenesPTX4, TELO2
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)nsv457332
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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