A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457605



Internal ID15170984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84579799..84639929hg38UCSC Ensembl
Innerchr16:84613405..84673535hg19UCSC Ensembl
Innerchr16:83170906..83231036hg18UCSC Ensembl
Innerchr16:83170906..83231036hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3860131
hg1960131
hg1860131
hg1760131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534753
SamplesHGDP01273
Known GenesCOTL1
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)nsv457605
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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