A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462115



Internal ID6028525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33935943..33968890hg19UCSC Ensembl
Innerchr5:33971700..34004647hg18UCSC Ensembl
Innerchr5:33971700..34004647hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv538367
Samples1780854338_A
Known GenesRXFP3, SLC45A2
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)nsv462115
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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