A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534543



Internal ID15159830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1752231..1791032hg38UCSC Ensembl
Innerchr16:1802232..1841033hg19UCSC Ensembl
Innerchr16:1742233..1781034hg18UCSC Ensembl
Innerchr16:1742233..1781034hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3838802
hg1938802
hg1838802
hg1738802
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457336
Supporting Variants
SamplesHGDP00518
Known GenesEME2, IGFALS, MAPK8IP3, MRPS34, NME3, NUBP2, SPSB3
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)nssv534543
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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