A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456059



Internal ID15516124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:89624573..89703421hg38UCSC Ensembl
Innerchr13:90276827..90355675hg19UCSC Ensembl
Innerchr13:89074828..89153676hg18UCSC Ensembl
Innerchr13:89074828..89153676hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3878849
hg1978849
hg1878849
hg1778849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533475
Samples1780862528_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)nsv456059
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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