A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534565



Internal ID15155576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6207541..6225530hg38UCSC Ensembl
Innerchr16:6257542..6275531hg19UCSC Ensembl
Innerchr16:6197543..6215532hg18UCSC Ensembl
Innerchr16:6197543..6215532hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3817990
hg1917990
hg1817990
hg1717990
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457365
Supporting Variants
Samples1780854261_A
Known GenesRBFOX1
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)nssv534565
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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