A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535933



Internal ID15512017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18407757..18434164hg38UCSC Ensembl
Innerchr21:19780074..19806481hg19UCSC Ensembl
Innerchr21:18701945..18728352hg18UCSC Ensembl
Innerchr21:18701945..18728352hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3826408
hg1926408
hg1826408
hg1726408
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459109
Supporting Variants
SamplesNINDS_186
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)nssv535933
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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