A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457437



Internal ID15170816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16127001..16195675hg38UCSC Ensembl
Innerchr16:16220858..16289532hg19UCSC Ensembl
Innerchr16:16128359..16197033hg18UCSC Ensembl
Innerchr16:16128359..16197033hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3868675
hg1968675
hg1868675
hg1768675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534630
SamplesHGDP00515
Known GenesABCC1, ABCC6
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)nsv457437
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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