A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457520



Internal ID6037007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74758984..74907440hg19UCSC Ensembl
Innerchr16:73316485..73464941hg18UCSC Ensembl
Innerchr16:73316485..73464941hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv534690
SamplesHGDP00538
Known GenesFA2H
MethodSNP_genotyping_analysis
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 Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv457520
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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