A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462083



Internal ID15522148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29254467..29327804hg38UCSC Ensembl
Innerchr5:29254574..29327911hg19UCSC Ensembl
Innerchr5:29290331..29363668hg18UCSC Ensembl
Innerchr5:29290331..29363668hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3873338
hg1973338
hg1873338
hg1773338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538337
Samples1782681024_A
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)nsv462083
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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