A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461889



Internal ID15175268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:429874..598109hg38UCSC Ensembl
Innerchr5:429989..598224hg19UCSC Ensembl
Innerchr5:482989..651224hg18UCSC Ensembl
Innerchr5:482989..651224hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38168236
hg19168236
hg18168236
hg17168236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538215
SamplesHGDP00428
Known GenesAHRR, C5orf55, EXOC3, MIR4456, PP7080, SLC9A3
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)nsv461889
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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