A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459264



Internal ID15519329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41687463..41716229hg38UCSC Ensembl
Innerchr21:43107623..43136389hg19UCSC Ensembl
Innerchr21:41980692..42009458hg18UCSC Ensembl
Innerchr21:41980692..42009458hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3828767
hg1928767
hg1828767
hg1728767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536056
Samples1780854235_A
Known GenesLINC00111, LINC00479
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)nsv459264
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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