A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459288



Internal ID15172667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43415628..43450270hg38UCSC Ensembl
Innerchr21:44835508..44870150hg19UCSC Ensembl
Innerchr21:43659936..43694578hg18UCSC Ensembl
Innerchr21:43659936..43694578hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3834643
hg1934643
hg1834643
hg1734643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536070
Samples1780862093_A
Known GenesLINC00319, SIK1
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)nsv459288
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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