A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536050



Internal ID15505815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38744120..38780448hg38UCSC Ensembl
Innerchr21:40116044..40152372hg19UCSC Ensembl
Innerchr21:39037914..39074242hg18UCSC Ensembl
Innerchr21:39037914..39074242hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3836329
hg1936329
hg1836329
hg1736329
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459255
Supporting Variants
SamplesHGDP00232
Known GenesLINC00114
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)nssv536050
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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