A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457522



Internal ID15170901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505987..75540526hg38UCSC Ensembl
Innerchr16:75539885..75574424hg19UCSC Ensembl
Innerchr16:74097386..74131925hg18UCSC Ensembl
Innerchr16:74097386..74131925hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3834540
hg1934540
hg1834540
hg1734540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv352n27
Supporting Variantsnssv534692
SamplesHGDP00017
Known GenesCHST5, TMEM231
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)nsv457522
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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