A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534624



Internal ID15508881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15883875..15931893hg38UCSC Ensembl
Innerchr16:15977732..16025750hg19UCSC Ensembl
Innerchr16:15885233..15933251hg18UCSC Ensembl
Innerchr16:15885233..15933251hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3848019
hg1948019
hg1848019
hg1748019
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457431
Supporting Variants
SamplesHGDP00911
Known GenesFOPNL
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)nssv534624
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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