A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462190



Internal ID15522255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59641117..59728044hg38UCSC Ensembl
Innerchr5:58936943..59023870hg19UCSC Ensembl
Innerchr5:58972700..59059627hg18UCSC Ensembl
Innerchr5:58972700..59059627hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3886928
hg1986928
hg1886928
hg1786928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538411
Samples1780862301_A
Known GenesPDE4D
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)nsv462190
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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