A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535936



Internal ID15512509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18682124..18718761hg38UCSC Ensembl
Innerchr21:20054442..20091079hg19UCSC Ensembl
Innerchr21:18976313..19012950hg18UCSC Ensembl
Innerchr21:18976313..19012950hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3836638
hg1936638
hg1836638
hg1736638
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459112
Supporting Variants
SamplesNINDS_271
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)nssv535936
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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