A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534629



Internal ID15163486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15886390..15954730hg38UCSC Ensembl
Innerchr16:15980247..16048587hg19UCSC Ensembl
Innerchr16:15887748..15956088hg18UCSC Ensembl
Innerchr16:15887748..15956088hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3868341
hg1968341
hg1868341
hg1768341
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457436
Supporting Variants
SamplesHGDP01201
Known GenesABCC1, FOPNL
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)nssv534629
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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