A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534545



Internal ID15505323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1817039..1897015hg38UCSC Ensembl
Innerchr16:1867040..1947016hg19UCSC Ensembl
Innerchr16:1807041..1887017hg18UCSC Ensembl
Innerchr16:1807041..1887017hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3879977
hg1979977
hg1879977
hg1779977
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457338
Supporting Variants
SamplesHGDP00102
Known GenesFAHD1, HAGH, LINC00254, MEIOB
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)nssv534545
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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