A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461891



Internal ID15521956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:560808..611638hg38UCSC Ensembl
Innerchr5:560923..611753hg19UCSC Ensembl
Innerchr5:613923..664753hg18UCSC Ensembl
Innerchr5:613923..664753hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3850831
hg1950831
hg1850831
hg1750831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv685n27
Supporting Variantsnssv538217
SamplesHGDP00187
Known GenesLOC100996325
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)nsv461891
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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