A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461982



Internal ID15522047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14943347..15044733hg38UCSC Ensembl
Innerchr5:14943456..15044842hg19UCSC Ensembl
Innerchr5:14996456..15097842hg18UCSC Ensembl
Innerchr5:14996456..15097842hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38101387
hg19101387
hg18101387
hg17101387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538285
SamplesHGDP00598
Known Genes
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)nsv461982
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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