A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534625



Internal ID15510179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15886390..15911711hg38UCSC Ensembl
Innerchr16:15980247..16005568hg19UCSC Ensembl
Innerchr16:15887748..15913069hg18UCSC Ensembl
Innerchr16:15887748..15913069hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3825322
hg1925322
hg1825322
hg1725322
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457432
Supporting Variants
SamplesHGDP01202
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)nssv534625
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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